FMR1 - fragile X messenger ribonucleoprotein 1 Gene

Also Known as POF; FMRP; POF1; FRAXA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2332

About FMR1

Cytogenetic location: Xq27.3 Genomic coordinates (GRCh38): X:147,911,919-147,951,125 (from NCBI)

This gene has 35 transcripts (splice variants), 204 orthologues, 2 paralogues and is associated with 11 phenotypes. Ubiquitous expression in thyroid (RPKM 16.8), brain (RPKM 15.9) and 25 other tissues.

Summary

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

FMR1 Products (5)

mRNA	Protein	Name
NM_001185075.2	NP_001172004.1	fragile X messenger ribonucleoprotein 1 isoform ISO6
NM_001185076.2	NP_001172005.1	fragile X messenger ribonucleoprotein 1 isoform ISO7
NM_001185081.2	NP_001172010.1	fragile X messenger ribonucleoprotein 1 isoform ISO12
NM_001185082.2	NP_001172011.1	fragile X messenger ribonucleoprotein 1 isoform ISO9
NM_002024.6	NP_002015.1	fragile X messenger ribonucleoprotein 1 isoform ISO1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables G-quadruplex RNA binding	EXP EXP: Inferred from Experiment	21642970	GOA
enables G-quadruplex RNA binding	IDA IDA: Inferred from direct assay	18653529	GOA
enables N6-methyladenosine-containing RNA reader activity	IDA IDA: Inferred from direct assay	31753916	GOA
enables RNA binding	IDA IDA: Inferred from direct assay	15381419	GOA
enables RNA binding	IMP IMP: Inferred from mutant phenotype	10496225	GOA
enables RNA stem-loop binding	IDA IDA: Inferred from direct assay	15805463	GOA
enables RNA strand annealing activity	IDA IDA: Inferred from direct assay	17057366	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	11157796	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	17850748	GOA
enables mRNA 3'-UTR binding	IDA IDA: Inferred from direct assay	17417632	GOA
enables mRNA 5'-UTR binding	IDA IDA: Inferred from direct assay	19166269	GOA
enables mRNA binding	IDA IDA: Inferred from direct assay	11157796	GOA
enables methylated histone binding	IDA IDA: Inferred from direct assay	24813610	GOA
enables miRNA binding	IDA IDA: Inferred from direct assay	17057366	GOA
enables molecular condensate scaffold activity	EXP EXP: Inferred from Experiment	31439799	GOA
enables molecular condensate scaffold activity	IDA IDA: Inferred from direct assay	30765518	GOA
enables molecular condensate scaffold activity	IPI IPI: Inferred from physical interaction	31439799	GOA
enables poly(G) binding	IDA IDA: Inferred from direct assay	7688265	GOA
enables poly(U) RNA binding	IDA IDA: Inferred from direct assay	7688265	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7489725	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	7489725	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	7489725	GOA
enables ribosome binding	IPI IPI: Inferred from physical interaction	24658146	GOA
enables sequence-specific mRNA binding	IDA IDA: Inferred from direct assay	12927206	GOA
enables siRNA binding	IDA IDA: Inferred from direct assay	17057366	GOA
enables signaling adaptor activity	IDA IDA: Inferred from direct assay	31439799	GOA
enables translation initiation factor binding	IPI IPI: Inferred from physical interaction	24658146	GOA
enables translation repressor activity	IDA IDA: Inferred from direct assay	11157796	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	25561520	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA repair	IDA IDA: Inferred from direct assay	24813610	GOA
involved in cellular response to virus	IDA IDA: Inferred from direct assay	24514761	GOA
involved in mRNA export from nucleus	IDA IDA: Inferred from direct assay	31753916	GOA
involved in modulation by host of viral RNA genome replication	IMP IMP: Inferred from mutant phenotype	24514761	GOA
involved in negative regulation of miRNA-mediated gene silencing	IMP IMP: Inferred from mutant phenotype	25464849	GOA
involved in negative regulation of translation	IDA IDA: Inferred from direct assay	12417522	GOA
involved in non-membrane-bounded organelle assembly	IDA IDA: Inferred from direct assay	30765518	GOA
involved in positive regulation of intracellular transport of viral material	IMP IMP: Inferred from mutant phenotype	24514761	GOA
involved in positive regulation of miRNA-mediated gene silencing	IDA IDA: Inferred from direct assay	17057366	GOA
involved in positive regulation of receptor internalization	IDA IDA: Inferred from direct assay	25561520	GOA
involved in positive regulation of translation	IDA IDA: Inferred from direct assay	19097999	GOA
involved in regulation of alternative mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	18653529	GOA
involved in regulation of dendritic spine development	IDA IDA: Inferred from direct assay	16631377	GOA
involved in regulation of filopodium assembly	IDA IDA: Inferred from direct assay	16631377	GOA
involved in regulation of neuronal action potential	IDA IDA: Inferred from direct assay	25561520	GOA
involved in stress granule assembly	IDA IDA: Inferred from direct assay	12417522	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Cajal body	IDA IDA: Inferred from direct assay	24204304	GOA
part of SMN complex	IDA IDA: Inferred from direct assay	18093976	GOA
located in cell projection	IDA IDA: Inferred from direct assay	15380484	GOA
is active in cytoplasm	IDA IDA: Inferred from direct assay	9259278	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	9659908	GOA
located in cytoplasmic ribonucleoprotein granule	IDA IDA: Inferred from direct assay	15121898	GOA
is active in cytoplasmic stress granule	IDA IDA: Inferred from direct assay	12417522	GOA
located in growth cone	IDA IDA: Inferred from direct assay	15380484	GOA
is active in intracellular non-membrane-bounded organelle	IDA IDA: Inferred from direct assay	30765518	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	18093976	GOA
is active in neuronal ribonucleoprotein granule	IDA IDA: Inferred from direct assay	30765518	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	16571602	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	16571602	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	31753916	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18936162	GOA
located in perikaryon	IDA IDA: Inferred from direct assay	15380484	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	24658146	GOA
part of ribonucleoprotein complex	IDA IDA: Inferred from direct assay	9659908	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FMR1 Protein Structure

Agenet

KH_1

FXMRP1_C_core

0
100
200
300
400
500
600
632 a.a.

Protein Preferred Names	Protein Names
fragile X messenger ribonucleoprotein 1	FMRP translational regulator 1

FMR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FMR1	Q06787	G3BP1	Homo sapiens	Q13283	Confocal	32525608
Intra	FMR1	Q06787	G3BP1	Homo sapiens	Q13283	Anti Bait CoIP	32525608
Intra	FMR1	Q06787	G3BP1	Homo sapiens	Q13283	Pull Down	32525608
Intra	FMR1	Q06787	CYFIP1	Homo sapiens	Q7L576	Confocal	11438699
Intra	FMR1	Q06787	DYRK1A	Homo sapiens	Q13627	Anti Bait CoIP	36950384
Intra	FMR1	Q06787	HCN1	Homo sapiens	O60741	Anti Bait CoIP	37207277
Intra	FMR1	Q06787	NUFIP2	Homo sapiens	Q7Z417	NMR	16407062
Intra	FMR1	Q06787	NUFIP2	Homo sapiens	Q7Z417	Pull Down	32525608
Intra	FMR1	Q06787	CYFIP2	Homo sapiens	Q96F07	Y2H	11438699
Intra	FMR1	Q06787	SYNGAP1	Homo sapiens	Q96PV0	Anti Bait CoIP	37207277
Intra	FMR1	Q06787	SFPQ	Homo sapiens	P23246	Y2H Fragment Pooling	31413325
Intra	FMR1	Q06787	SFPQ	Homo sapiens	P23246	Pull Down	32525608
Intra	FMR1	Q06787	FMR1	Homo sapiens	Q06787	Y2H Fragment Pooling	31413325
Intra	FMR1	Q06787	FMR1	Homo sapiens	Q06787	X-Ray Diffraction	17850748
Intra	FMR1	Q06787	FXR2	Homo sapiens	P51116	Crosslink	26949739
Intra	FMR1	Q06787	FMR1	Homo sapiens	Q06787	EM	21446998
Intra	FMR1	Q06787	FXR1	Homo sapiens	P51114	Crosslink	26949739
Intra	FMR1	Q06787	FXR1	Homo sapiens	P51114	Y2H Fragment Pooling	31413325
Intra	FMR1	Q06787	FXR1	Homo sapiens	P51114	Pull Down	32525608
Intra	FMR1	Q06787	ACOT7	Homo sapiens	O00154	Crosslink	26949739

Cross: Cross-species interaction Intra: Intraspecies interaction

FMR1 Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P80970	FMRP Antibody (YA850)	WB, ICC/IF, IHC-P	Human, Mouse, Rat
HY-P84501	FMRP Antibody (YA4198)	IHC-P, ICC/IF, ELISA	Human
HY-P84501A	FMRP Antibody (YA4198)(PBS only)	IHC-P, ICC/IF, ELISA	Human

Related Diseases

Diseases	Alias
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Premature Ovarian Failure 1	Ovarian Failure, Premature Fmr1-Related Primary Ovarian Insufficiency Fragile X-Associated Primary Ovarian Insufficiency POF1 Pofx Hypergonadotropic Ovarian Failure, X-Linked Pof Primary Ovarian Insufficiency, Fragile X-Associated Primary Ovarian Insufficiency 1 Ovarian Failure Premature Premature Ovarian Failure, X-Linked Fragile X Premature Ovarian Failure Fmr1-Related Premature Ovarian Failure Familial Premature Ovarian Failure Idiopathic Familial Premature Ovarian Failure Fxpoi X-Linked Hypergonadotropic Ovarian Failure Hypergonadotropic Ovarian Failure X-Linked Poi Premature Ovarian Failure X-Linked Primary Ovarian Insufficiency Premature Ovarian Failure-1 Ovarian Failure, Premature, Type 1 Premature Ovarian Failure, Familial Premature Menopause Primary Hypogonadism Turner Syndrome
Fragile X Tremor/Ataxia Syndrome	FXTAS
Fragile X-Associated Tremor/Ataxia Syndrome	Fxtas Syndrome Fragile X Tremor/Ataxia Syndrome Fxtas
Chromosome Xq27.3-Q28 Duplication Syndrome	Xq27.3q28 Duplication Syndrome Dup Trisomy Xq27.3-Q28 Trisomy Xq27.3q28 Xq27.3-Q28 Microduplication Syndrome
X-Linked Hereditary Ataxia
Intellectual Developmental Disorder, X-Linked 109	Fraxe Syndrome Fragile Xe Syndrome Mental Retardation, X-Linked, Fraxe Type XLID109 Mrx109 Mental Retardation, X-Linked, Associated With Fragile Site Fraxe Fraxe Mental Retardation Syndrome X-Linked Intellectual Developmental Disorder 109 Fraxe Intellectual Disability Fraxe Mental Retardation, X-Linked 109 Fragile Site On Chromosome Xq28 Fragile Site, Folic Acid Type X-Linked Intellectual Disability Associated With Fragile Site Fraxe Fraxe Intellectual Deficit Intellectual Disability Associated With Fragile Site Fraxe
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Learning Disability	Learning Disabilities Learning Disorders Academic Skill Disorder Learning Disorder
Echolalia
Ovarian Disease	Ovarian Dysfunction Ovarian Diseases Ovarian Disorders Disorder Of Endocrine Ovary
Tremor	Medicament-Induced Tremor Medication-Induced Postural Tremor
Influenza	Flu Influenza With Non-Respiratory Manifestation Influenza With Other Manifestations Influenza, Human Influenza, Susceptibility To Seasonal Influenza, Virus Identified
Anxiety	Anxiety Disorder Anxiety Disorders Anxiety State Anxieties Anxiety Neurosis
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Specific Developmental Disorder
Essential Tremor	Benign Essential Tremor Familial Tremor Hereditary Essential Tremor Essential Hereditary Tremor Shaky Hand Syndrome Benign Essential Tremor Syndrome Tremor Hereditary Essential Essential Tremor, Susceptibility To Tremor, Hereditary Essential
Audiogenic Seizures	Audiogenic Seizure
Turner Syndrome	Monosomy X Gonadal Dysgenesis Turner Type Ullrich-Turner Syndrome Bonnevie-Ullrich Syndrome Karyotype 45, X Genital Dwarfism, Turner Type Gonadal Dysgenesis 45,X Turner'S Syndrome Gonadal Dysgenesis - Turner Monosomy X Syndrome Xo Syndrome Genital Dwarfism 45, X Syndrome Bonnevie-Ulrich Syndrome Chromosome X Monosomy X Schereshevkii Turner Syndrome Turner Varny Syndrome Ts 45,X Syndrome 45,X/46,Xx Syndrome Turners Syndrome Gonadal Dysgenesis, 45,X X0 Syndrome
Amenorrhea	Absence Of Menstruation Amenia
Middle Cranial Fossa Meningioma	Meningioma Of The Middle Cranial Fossa
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Movement Disease	Movement Disorders Movement Disorder
Fibromyalgia	Diffuse Myofascial Pain Syndrome Fibromyalgia Syndrome Fibromyalgia-Fibromyositis Syndrome Fibromyositis Fibrositis Fms Myofascial Pain Syndrome Myofascial Pain Syndromes
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Myotonic Dystrophy 1	Myotonic Dystrophy Dystrophia Myotonica Steinert Disease Myotonic Dystrophy Type 1 Myotonia Atrophica DM1 Congenital Myotonic Dystrophy Myotonia Dystrophica Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dm Steinert'S Disease Steinert Myotonic Dystrophy Syndrome Myotonic Dystrophy Of Steinert Dystrophia Myotonica Type 1 Myotonic Dystrophy Congenital Dystrophy, Myotonic, Type 1 Dm - [Dystrophia Myotonica] Myotonic Muscular Dystrophy
Atypical Autism	Pdd
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency
Restless Legs Syndrome	Wed Willis-Ekbom Disease Restless Leg Syndrome Ekbom Syndrome Wittmaack-Ekbom Syndrome Willis Ekbom Disease Ekbom'S Syndrome Rls Restless Legs Restless Legs Syndrome, Susceptibility To
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Social Phobia	Phobia, Social Phobia Social Phobic Anxiety Disorder
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Multiple System Atrophy 1	Multiple System Atrophy Shy-Drager Syndrome Msa MSA1 Multiple System Atrophy 1, Susceptibility To Sporadic Olivopontocerebellar Atrophy Multisystem Atrophy Msa1, Susceptibility To Multiple System Atrophy, Susceptibility To Opca Progressive Autonomic Failure With Multiple System Atrophy Sds
Phobic Disorder	Phobic Disorders Phobic Anxiety Disorder
Disease Of Mental Health	Mental Health Mental Disorders
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Gene Duplication Disease	Gene Duplication Syndrome
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Intestinal Disaccharidase Deficiency	Disaccharidase Deficiency
Phelan-Mcdermid Syndrome	Chromosome 22q13.3 Deletion Syndrome 22q13.3 Deletion Syndrome Telomeric 22q13 Monosomy Syndrome PHMDS Deletion 22q13 Syndrome 22q13.3 Deletion Deletion 22q13.3 Syndrome Monosomy 22q13 Monosomy 22q13.3 22q13 Deletion Syndrome Monosomy 22q13 Syndrome 22q13 Deletion Chromosome Deletion
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Wilson-Turner Syndrome WTS Mrxs6 X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome Mrxswt Wilson-Turner X-Linked Mental Retardation Syndrome Mental Retardation, X-Linked, Syndromic 6 Mental Retardation, X-Linked, With Gynecomastia And Obesity Intellectual Disability, X-Linked, Syndromic 6 Intellectual Disability, X-Linked, With Gynecomastia And Obesity Wilson Turner Intellectual Disability Syndrome X-Linked Intellectual Disability - Gynecomastia - Obesity
Schizoid Personality Disorder
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia Type 10 SCA10 Spinocerebellar Ataxia-10 Ataxia, Spinocerebellar, Type 10
Phobia, Specific	Specific Phobia Simple Phobia Phobia, Simple Isolated Phobia
Chromosomal Duplication Syndrome
Speech And Communication Disorders	Language Disorder Communication Disorder Language Disorders Communication Disorders Speech Language Disorder Speech-Language Disorder Communication Impairment Speech And Language Disorder
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Childhood Disintegrative Disease	Childhood Disintegrative Disorder Disintegrative Psychosis Heller'S Syndrome Symbiotic Psychosis Dementia Infantilis Heller Syndrome Shared Paranoid Disorder
Pitt-Hopkins-Like Syndrome 1	Cortical Dysplasia-Focal Epilepsy Syndrome CDFES PTHSL1 Cdfe Syndrome Pitt-Hopkins Like Syndrome 1 Pitt-Hopkins-Like Syndrome-1 Cntnap2-Related Developmental And Epileptic Encephalopathy Cntnap2-Related Dee Mesh D006985 Mesh D008607
Cataract 24	CTRCT24 Cataract 24, Anterior Polar Cataract, Anterior Polar, 2 Ctaa2 Anterior Polar Cataract 2 Early-Onset Anterior Polar Cataract Early-Onset Anterior Subcapsular Cataract Anterior Polar Cataract 24 Cataract Anterior Polar Cataract, Anterior Polar-2 Cataract, Anterior Polar
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Myotonic Disease	Myotonic Disorders Myotonic Syndrome Symptomatic Myotonia
Speech Disorder	Speech Disorders
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Mucopolysaccharidosis, Type Ii	Hunter Syndrome Iduronate 2-Sulfatase Deficiency Mucopolysaccharidosis Ii Mps Ii Mucopolysaccharidosis Type Ii MPS2 Sulfoiduronate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Ii Ids Deficiency Sids Deficiency I2s Deficiency Mucopolysaccharidosis Type 2 Mucopolysaccharidosis Type 2, Severe Form Deficiency Of Iduronate-2-Sulphatase Hunter'S Syndrome Mps Ii - Hunter Syndrome Iduronate-2-Sulfatase Deficiency Attenuated Mps Mps 2 Severe Mps Ii Mpsii Mucopolysaccharidosis Type 2, Attenuated Form Hunter Syndrome Type B Iduronate 2-Sulfatase Deficiency Type B Mps2b Mpsiib Mucopolysaccharidosis Type 2b Mucopolysaccharidosis Type Ii, Attenuated Form Mucopolysaccharidosis Type Iib Hunter Syndrome Type A Iduronate 2-Sulfatase Deficiency Type A Mps2a Mpsiia Mucopolysaccharidosis Type 2a Mucopolysaccharidosis Type Ii, Severe Form Mucopolysaccharidosis Type Iia Mucopolysaccharidosis 2 Hunters Syndrome Iduronate 2-Sulphatase Deficiency Iduronate Sulfatase Deficiency Iduronate Sulphatase Deficiency Sulfo-Iduronate Sulfatase Deficiency Sulfoiduronidate Sulfatase Deficiency Sulpho-Iduronate Sulphatase Deficiency Sulphoiduronidate Sulphatase Deficiency Mps2 - [Mucopolysaccharidosis 2]
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Chromosomal Deletion Syndrome
Myotonic Dystrophy 2	Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy Promm Ricker Syndrome DM2 Dystrophia Myotonica 2 Myotonic Myopathy, Proximal Myotonic Disorders Dystrophia Myotonica Type 2 Proximal Myotonic Dystrophy Ricker Disease Myotonic Dystrophy, Type 2 Dystrophy, Myotonic, Type 2
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Kennedy Disease Sbma Spinal And Bulbar Muscular Atrophy Kennedy'S Disease X-Linked Spinal And Bulbar Muscular Atrophy SMAX1 Kd Kennedy Spinal And Bulbar Muscular Atrophy Spinobulbar Muscular Atrophy Bulbospinal Muscular Atrophy, X-Linked Bulbospinal Neuronopathy, X-Linked Recessive Xbsn Spinal And Bulbar Muscular Atrophy Of Kennedy Bulbospinal Muscular Atrophy X-Linked Bulbospinal Amyotrophy Bulbo-Spinal Atrophy, X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bsma X-Linked Bulbospinal Muscular Atrophy Spinal And Bulbar Muscular Atrophy X-Linked 1 Bulbospinal Muscular Atrophy X-Linked Bulbospinal Neuronopathy X-Linked Recessive Kennedy Disease) Kennedy Syndrome Atrophy, Muscular, Spinal And Bulbar, Kennedy Type Atrophy, Muscular, Spinobulbar Bulbospinal Neuronopathy
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Syndromic Intellectual Disability
Autosomal Recessive Cerebellar Ataxia	Arca
Spinocerebellar Ataxia 1	Spinocerebellar Ataxia Type 1 SCA1 Olivopontocerebellar Atrophy I Opca1 Opca4 Menzel Type Opca Schut-Haymaker Type Opca Spinocerebellar Atrophy I Opca I Olivopontocerebellar Atrophy Iv Opca Iv Cerebelloparenchymal Disorder I Cpd1 Olivopontocerebellar Atrophy 1 Cerebelloparenchymal Disorder 1 Olivopontocerebellar Atrophy 4 Spinocerebellar Atrophy 1 Type 1 Spinocerebellar Ataxia Spinocerebellar Ataxia-1 Ataxia, Spinocerebellar, Type 1
Meier-Gorlin Syndrome 2	MGORS2 Meier-Gorlin Syndrome, Type 2
Epilepsy, Idiopathic Generalized 9	Epilepsy, Idiopathic Generalized, Susceptibility To, 9 EIG9 Epilepsy, Juvenile Myoclonic 6 Idiopathic Generalized Epilepsy 9 Epilepsy, Juvenile Myoclonic, Susceptibility To, 6 Susceptibility To Idiopathic Generalized Epilepsy 9 Juvenile Myoclonic Epilepsy 6 EJM6 Susceptibility To Juvenile Myoclonic Epilepsy 6 Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9
Spinocerebellar Ataxia, X-Linked 3	Scax3 X-Linked Spinocerebellar Ataxia 3 X-Linked Ataxia-Deafness Syndrome X-Linked Spinocerebellar Ataxia Type 3 Ataxia-Deafness Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 3 Ataxia-Deafness Syndrome X-Linked X-Linked Ataxia-Hearing Loss Syndrome Spinocerebellar Ataxia, X-Linked, 3
Spinocerebellar Ataxia, X-Linked 4	Scax4 X-Linked Spinocerebellar Ataxia 4 X-Linked Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia Type 4 Ataxia-Dementia Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 4 Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia, X-Linked, 4
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Epilepsy, Idiopathic Generalized 2	EIG2 Epilepsy, Idiopathic Generalized, Susceptibility To, 2 Idiopathic Generalized Epilepsy 2 Epilepsy, Idiopathic Generalized Locus On Chromosome 14 Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 14
Spinocerebellar Ataxia 8	Spinocerebellar Ataxia Type 8 SCA8 Ataxia, Spinocerebellar, Type 8
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	MRXSBL Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance Mental Retardation, X-Linked 60, Formerly Mrx60, Formerly Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type Mrx60 Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Specific Language Impairment	Language Impairment, Specific
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Velocardiofacial Syndrome	Shprintzen Syndrome VCFS Chromosome 22q11.2 Deletion Syndrome Vcf Syndrome Shprintzen Vcf Syndrome Vcf-Velocardiofacial Syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome 22q11 Deletion Syndrome Conotruncal Anomaly Face Syndrome
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-100786	DL-AP3		≥98.0%	Unkown
HY-160887	FPT	Agonist	98.06%	Unkown
HY-181828	SePP	Antagonist	/	Unkown
HY-RS05011	FMR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05012	FMR1NB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19332	Fmr1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25823	Fmr1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FMR1	VGNC	VGNC:62313
Macaca mulatta	FMR1	VGNC	VGNC:72687
Bos taurus	FMR1	VGNC	VGNC:29055
Rattus norvegicus	FMR1	RGD	RGD:2623
Mus musculus	FMR1	MGD	MGI:95564
Canis familiaris	FMR1	VGNC	VGNC:40922
Others	FMR1	NCBI