FXN - frataxin Gene

Also Known as FA; X25; CyaY; FARR; FRDA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2395

About FXN

Cytogenetic location: 9q21.11 Genomic coordinates (GRCh38): 9:69,035,752-69,079,076 (from NCBI)

This gene has 5 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 1.7), adrenal (RPKM 1.7) and 25 other tissues.

Summary

This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

FXN Products (2)

mRNA	Protein	Name
NM_000144.5	NP_000135.2	frataxin, mitochondrial isoform 1 preproprotein
NM_181425.3	NP_852090.1	frataxin, mitochondrial isoform 2 preproprotein

FXN Protein Structure

Frataxin_Cyay

0
100
200
210 a.a.

Protein Preferred Names	Protein Names
frataxin, mitochondrial	Friedreich ataxia protein

FXN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FXN	Q16595	SAMD3	Homo sapiens	Q8N6K7-2	Validated Y2H	32814053
Intra	FXN	Q16595	SAMD3	Homo sapiens	Q8N6K7-2	Y2H Array	32814053
Intra	FXN	Q16595	SAMD3	Homo sapiens	Q8N6K7-2	Y2H Pooling	32814053
Intra	FXN	Q16595	ARL17	Homo sapiens	Q9BVU5	Validated Y2H	32814053
Intra	FXN	Q16595	ARL17	Homo sapiens	Q9BVU5	Y2H Array	32814053
Intra	FXN	Q16595	ARL17	Homo sapiens	Q9BVU5	Y2H Pooling	32814053
Intra	FXN	Q16595	CORO2A	Homo sapiens	Q92828	Y2H Pooling	32814053
Intra	FXN	Q16595	CORO2A	Homo sapiens	Q92828	Validated Y2H	32814053
Intra	FXN	Q16595	CORO2A	Homo sapiens	Q92828	Y2H Array	32814053
Intra	FXN	Q16595	SKIC8	Homo sapiens	Q9GZS3	Y2H Pooling	32814053
Intra	FXN	Q16595	SKIC8	Homo sapiens	Q9GZS3	Validated Y2H	32814053
Intra	FXN	Q16595	SKIC8	Homo sapiens	Q9GZS3	Y2H Array	32814053
Intra	FXN	Q16595	CAPN10	Homo sapiens	Q9HC96	Y2H Pooling	32814053
Intra	FXN	Q16595	CAPN10	Homo sapiens	Q9HC96	Validated Y2H	32814053
Intra	FXN	Q16595	CAPN10	Homo sapiens	Q9HC96	Y2H Array	32814053
Intra	FXN	Q16595	DAPP1	Homo sapiens	Q9UN19	Validated Y2H	32814053
Intra	FXN	Q16595	DAPP1	Homo sapiens	Q9UN19	Y2H Prey Pooling	32296183
Intra	FXN	Q16595	DAPP1	Homo sapiens	Q9UN19	Y2H Array	32814053
Intra	FXN	Q16595	DAPP1	Homo sapiens	Q9UN19	Validated Y2H	32296183
Intra	FXN	Q16595	DAPP1	Homo sapiens	Q9UN19	Y2H Array	32296183
Intra	FXN	Q16595	DAPP1	Homo sapiens	Q9UN19	Y2H Pooling	32814053
Intra	FXN	Q16595	RASSF1	Homo sapiens	Q9NS23-4	Y2H Pooling	32814053
Intra	FXN	Q16595	RASSF1	Homo sapiens	Q9NS23-4	Validated Y2H	32814053
Intra	FXN	Q16595	RASSF1	Homo sapiens	Q9NS23-4	Y2H Array	32814053
Intra	FXN	Q16595	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183
Intra	FXN	Q16595	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Prey Pooling	32296183
Intra	FXN	Q16595	PIAS1	Homo sapiens	O75925	Validated Y2H	32814053
Intra	FXN	Q16595	PIAS1	Homo sapiens	O75925	Y2H Array	32814053
Intra	FXN	Q16595	PIAS1	Homo sapiens	O75925	Y2H Pooling	32814053
Intra	FXN	Q16595	RNF183	Homo sapiens	Q96D59	Validated Y2H	32814053
Intra	FXN	Q16595	RNF183	Homo sapiens	Q96D59	Y2H Pooling	32814053
Intra	FXN	Q16595	RNF183	Homo sapiens	Q96D59	Y2H Array	32814053
Intra	FXN	Q16595	RNF138	Homo sapiens	Q8WVD3	Y2H Array	32814053
Intra	FXN	Q16595	RNF138	Homo sapiens	Q8WVD3	Y2H Pooling	32814053
Intra	FXN	Q16595	RNF138	Homo sapiens	Q8WVD3	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FXN Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72266	Frataxin/FXN Protein, Human (His, Myc)	Q16595-1 (M1-A210)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
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
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Autosomal Recessive Cerebellar Ataxia	Arca
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Ataxia With Vitamin E Deficiency	Ataxia With Isolated Vitamin E Deficiency AVED Familial Isolated Vitamin E Deficiency Friedreich-Like Ataxia Familial Isolated Deficiency Of Vitamin E Isolated Vitamin E Deficiency Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency Vitamin E Deficiency, Familial Isolated Ved Friedreich-Like Ataxia With Selective Vitamin E Deficiency Five Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency Vitamin E Familial Isolated, Deficiency Of Ataxia Friedreich-Like With Selective Vitamin E Deficiency
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Friedreich Ataxia 2	FRDA2 Friedreich Ataxia, Type 2
Anemia, Sideroblastic, And Spinocerebellar Ataxia	X-Linked Sideroblastic Anemia With Ataxia ASAT X-Linked Sideroblastic Anemia And Ataxia X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia Anemia, Sideroblastic, With Ataxia Anemia Sideroblastic And Spinocerebellar Ataxia Pagon Bird Detter Syndrome Pagon-Bird-Detter Syndrome Xlsa-A X-Linked Sideroblastic Anaemia And Ataxia X-Linked Sideroblastic Anaemia With Ataxia Sideroblastic Anemia With Spinocerebellar Ataxia Xlsa/A Anemia, Sideroblastic, Spinocerebellar Ataxia Sideroblastic Anemia And Ataxia Anemia Sideroblastic, And Spinocerebellar Ataxia
Sensory Peripheral Neuropathy	Sensory Neuropathy Peripheral Sensory Neuropathy Hereditary Sensory And Autonomic Neuropathies
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
Tabes Dorsalis	Posterior Spinal Sclerosis Tabes Dorsalis - Neurosyphilis Syphilitic Myelopathy
Anemia, Sideroblastic, 1	Xlsa X-Linked Sideroblastic Anemia Hypochromic Anemia Anh1 Hereditary Iron-Loading Anemia Anemia, Sideroblastic, X-Linked Anemia, Hereditary Sideroblastic Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Sideroblastic Anemia SIDBA1 Anemia, Hypochromic Sideroblastic Anemia 1 Anemia Hypochromic X Chromosome-Linked Sideroblastic Anemia Sideroblastic Anaemia 1 X-Linked Sideroblastic Anaemia Anemia Hereditary Sideroblastic Anemia Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anemia Sideroblastic Anemia X-Linked Anemia, Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anaemia X-Linked Pyridoxine-Responsive Sideroblastic Anemia Anemia Congenital Sideroblastic Anemia, Sideroblastic, Type 1 Sex-Linked Hypochromic Sideroblastic Anaemia Autosomal Recessive Sideroblastic Anaemia Familial Sex Linked Hypochromic Anaemia
Atrial Standstill 1	ATRST1 Atrial Cardiomyopathy With Heart Block Cardiomyopathy, Familial, With Conduction Disturbance Atrial Standstill, Digenic Familial Cardiomyopathy With Conduction Disturbance Standstill, Atrial, Type 1 Heart Block Cardiomyopathies Idiopathic Cardiomyopathy Idiopathic Cardiopathy Primary Myocardial Disease Primary Cardiomyopathy Myocardiopathy Myocardosis Primary Idiopathic Myocardial Disease
Scoliosis
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Combined Oxidative Phosphorylation Deficiency 37	COXPD37
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
X-Linked Hereditary Ataxia
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Aoa1 Ataxia-Telangiectasia-Like Disorder EAOH Eoca-Ha Ataxia With Oculomotor Apraxia Type 1 Ataxia-Oculomotor Apraxia 1 Ataxia-Oculomotor Apraxia Syndrome AOA Ataxia-Telangiectasia-Like Syndrome Ataxia-Oculomotor Apraxia Type 1 Ataxia With Oculomotor Apraxia Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia Early-Onset Cerebellar Ataxia With Hypoalbuminemia Adult Onset Ataxia With Oculomotor Apraxia Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia Scan2 Scar1 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 Atld Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia Cerebellar Ataxia Early-Onset With Hypoalbuminemia Ataxia-Oculomotor Apraxia Spinocerebellar Ataxia, Autosomal Recessive 1
Lichtenstein-Knorr Syndrome	Scar19 LIKNS Autosomal Recessive Spinocerebellar Ataxia 19 Spinocerebellar Ataxia, Autosomal Recessive 19 Progressive Autosomal Recessive Ataxia-Deafness Syndrome Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 19
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Combined Oxidative Phosphorylation Deficiency 19	COXPD19 Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Combined Oxidative Phosphorylation Deficiency, Type 19
Fragile X-Associated Tremor/Ataxia Syndrome	Fxtas Syndrome Fragile X Tremor/Ataxia Syndrome Fxtas
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Myotonic Disease	Myotonic Disorders Myotonic Syndrome Symptomatic Myotonia
Tactile Agnosia
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Aoa2 Ataxia With Oculomotor Apraxia Type 2 Scar1 SCAN2 Ataxia-Oculomotor Apraxia 2 Ataxia-Ocular Apraxia 2 Ataxia-Oculomotor Apraxia Type 2 Scan 2 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly Scar1, Formerly Autosomal Recessive Spinocerebellar Ataxia-1 Spinocerebellar Ataxia, Autosomal Recessive, 1 Ataxia-Ocular Apraxia-2 Spinocerebellar Ataxia, Autosomal Recessive 1
Tertiary Neurosyphilis	Late Neurosyphilis Late Syphilis Of Central Nervous System Nos
Neurodegeneration With Brain Iron Accumulation 3	Neuroferritinopathy NBIA3 Ferritin-Related Neurodegeneration Hereditary Ferritinopathy Basal Ganglia Disease, Adult-Onset Adult Basal Ganglia Disease Neuroferritinopathy Basal Ganglia Disease, Adult-Onset Basal Ganglia Disease Adult-Onset Adult-Onset Basal Ganglia Disease Neurodegeneration, With Brain Iron Accumulation, Type 3
Bone Structure Disease
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
Huntington Disease-Like 2	HDL2 Huntington'S Disease-Like 2 Huntington Disease-Like, Type 2
Dentatorubral-Pallidoluysian Atrophy	DRPLA Naito-Oyanagi Disease Haw River Syndrome Myoclonic Epilepsy With Choreoathetosis Nod Ataxia, Chorea, Seizures, And Dementia Dentatorubropallidoluysian Atrophy Hrs Naito Oyanagi Disease Dentatorubral Pallidoluysian Atrophy Dentatorubro-Pallidoluysian Atrophy Myoclonic Epilepsies, Progressive Atrophy, Pallidoluysian, Dentatorubral
Mitochondrial Dna Depletion Syndrome 7	Ohaha Syndrome Infantile Onset Spinocerebellar Ataxia Iosca Infantile-Onset Spinocerebellar Ataxia Spinocerebellar Ataxia 8 MTDPS7 Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome Sca8 Spinocerebellar Ataxia Infantile With Sensory Neuropathy Spinocerebellar Ataxia, Infantile-Onset Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy Spinocerebellar Ataxia 8, Formerly Sca8, Formerly Iosca, Mitochondrial Dna Depletion Syndrome 7 Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form Mtdna Depletion Syndrome, Hepatocerebrorenal Form Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Spinocerebellar Ataxia Infantile-Onset Mitochondrial Dna Depletion Syndrome , Type 7
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
Diabetes Mellitus	Diabetes
Marinesco-Sjogren Syndrome	Marinesco-Sjögren Syndrome MSS Marinesco-Garland Syndrome Garland-Moorhouse Syndrome Hereditary Oligophrenic Cerebello-Lental Degeneration Oligophrenic Cerebellolenticular Degeneration Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren-Garland Syndrome Marinesco-Sjoegren Syndrome
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
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Bilateral Hypoactive Labyrinth	Hypoactive Bilateral Labyrinthine Dysfunction Hypoactive Labyrinth, Bilateral
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia Type 10 SCA10 Spinocerebellar Ataxia-10 Ataxia, Spinocerebellar, Type 10
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
Cortical Deafness
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
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
Spinocerebellar Ataxia 6	Spinocerebellar Ataxia Type 6 SCA6 Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia-6 Ataxia, Spinocerebellar, Type 6
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
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
Barth Syndrome	3-Methylglutaconic Aciduria Type 2 BTHS Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria Mga Type Ii Mga2 Mgca2 Mga Type 2 3-Methylglutaconic Aciduria Type Ii 3-Methylglutaconic Aciduria, Type Ii Mga, Type Ii 3-Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type Ii Taz Defect 3 Methylglutaconic Aciduria, Type Ii Dnajc19 Defect Cardioskeletal Myopathy-Neutropenia Syndrome X-Linked Cardioskeletal Myopathy And Neutropenia 3-Alpha-Methylglutaconic Aciduria Type 2 Agm2 Cardioskeletal Myopathy-Neutropenia Invm Left Ventricular Non-Compaction Isolated X-Linked Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked Agammaglobulinemia 2, Autosomal Recessive
Giant Axonal Neuropathy 1, Autosomal Recessive	Giant Axonal Neuropathy Giant Axonal Neuropathy 1 Gan GAN1 Giant Axonal Neuropathy-1 Neuropathy, Giant Axonal Giant Axonal Disease Neuropathy, Axonal, Giant, Type 1
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Mitochondrial Complex Iii Deficiency Nuclear Type 2 MC3DN2 Mitochondrial Complex Ii Deficiency, Nuclear Type 3 MC2DN3 Mitochondrial Complex 2 Deficiency, Nuclear Type 3 Mitochondrial Complex Iii Deficiency, Nuclear 2
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Machado-Joseph Disease	SCA3 MJD Spinocerebellar Ataxia 3 Azorean Disease Spinocerebellar Ataxia Type 3 Spinocerebellar Atrophy Azorean Neurologic Disease Spinopontine Atrophy Nigrospinodentatal Degeneration Spinocerebellar Atrophy Iii Spinocerebellar Atrophy Type 3 Azorean Ataxia Azorean Disease Of The Nervous System Machado Disease Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia Disease, Machado-Joseph Ataxia, Spinocerebellar
Choreatic Disease	Chorea Hereditary Chorea
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Spastic Ataxia	Spax Ataxia, Spastic
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
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
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Myopathy	Muscular Diseases Myopathies
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
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
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
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
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
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

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0364A	Dyclonine hydrochloride		99.12%	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-149737	FXn		/	Phase 1

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05162	FXN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-B0364AS	Dyclonine-d9 hydrochloride		/	Unkown
HY-158740	1(R)-(Trifluoromethyl)oleyl alcohol	Inhibitor	/	Unkown
HY-RS18448	Fxn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24930	Fxn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FXN	MGD	MGI:1096879
Felis catus	FXN	VGNC	VGNC:62397
Rattus norvegicus	FXN	RGD	RGD:1565754
Bos taurus	FXN	VGNC	VGNC:29155
Canis familiaris	FXN	VGNC	VGNC:41018
Macaca mulatta	FXN	VGNC	VGNC:72817
Others	FXN	NCBI