STXBP1 - syntaxin binding protein 1 Gene

Also Known as P67; DEE4; NSEC1; UNC18; N-Sec1; RBSEC1; unc-18A; unc18-1; MUNC18-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6812

About STXBP1

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:127,611,912-127,696,029 (from NCBI)

This gene has 25 transcripts (splice variants), 286 orthologues, 7 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 151.7), adrenal (RPKM 16.3) and 6 other tissues.

Summary

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

STXBP1 Products (12)

mRNA	Protein	Name
NM_001032221.6	NP_001027392.1	syntaxin-binding protein 1 isoform b
NM_001374306.2	NP_001361235.1	syntaxin-binding protein 1 isoform c
NM_001374307.2	NP_001361236.1	syntaxin-binding protein 1 isoform d
NM_001374308.2	NP_001361237.1	syntaxin-binding protein 1 isoform d
NM_001374309.2	NP_001361238.1	syntaxin-binding protein 1 isoform e
NM_001374310.2	NP_001361239.1	syntaxin-binding protein 1 isoform e
NM_001374311.2	NP_001361240.1	syntaxin-binding protein 1 isoform e
NM_001374312.2	NP_001361241.1	syntaxin-binding protein 1 isoform e
NM_001374313.2	NP_001361242.1	syntaxin-binding protein 1 isoform f
NM_001374314.1	NP_001361243.1	syntaxin-binding protein 1 isoform g
NM_001374315.2	NP_001361244.1	syntaxin-binding protein 1 isoform h
NM_003165.6	NP_003156.1	syntaxin-binding protein 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16049941	GOA
enables syntaxin binding	IPI IPI: Inferred from physical interaction	12773094	GOA
enables syntaxin-1 binding	IPI IPI: Inferred from physical interaction	12730201	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in SNARE complex assembly	IMP IMP: Inferred from mutant phenotype	23091057	GOA
involved in platelet aggregation	IMP IMP: Inferred from mutant phenotype	12773094	GOA
involved in platelet degranulation	IMP IMP: Inferred from mutant phenotype	12773094	GOA
involved in protein localization to plasma membrane	IDA IDA: Inferred from direct assay	17543282	GOA
involved in regulation of acrosomal vesicle exocytosis	IMP IMP: Inferred from mutant phenotype	23091057	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	12773094	GOA
located in platelet alpha granule	IDA IDA: Inferred from direct assay	12773094	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

STXBP1 Protein Structure

Sec1

0
100
200
300
400
500
594 a.a.

Protein Preferred Names	Protein Names
syntaxin-binding protein 1	neuronal SEC1

STXBP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	STXBP1	P61764	CENPP	Homo sapiens	Q6IPU0	Validated Y2H	32296183
Intra	STXBP1	P61764	CENPP	Homo sapiens	Q6IPU0	Y2H Array	32296183
Intra	STXBP1	P61764	CENPP	Homo sapiens	Q6IPU0	Y2H Prey Pooling	32296183
Intra	STXBP1	P61764	TRIM38	Homo sapiens	O00635	Y2H Prey Pooling	25416956
Intra	STXBP1	P61764	TRIM38	Homo sapiens	O00635	Y2H Array	25910212
Intra	STXBP1	P61764	TRIM38	Homo sapiens	O00635	Validated Y2H	25416956
Intra	STXBP1	P61764	TRIM38	Homo sapiens	O00635	Y2H Prey Pooling	32296183
Intra	STXBP1	P61764	TRIM38	Homo sapiens	O00635	Y2H Array	25416956
Intra	STXBP1	P61764	TRIM38	Homo sapiens	O00635	Y2H Bait-Prey Pool	25910212
Intra	STXBP1	P61764	TRIM38	Homo sapiens	O00635	Y2H Array	32296183
Intra	STXBP1	P61764	TRIM38	Homo sapiens	O00635	Validated Y2H	25910212
Intra	STXBP1	P61764	SPICE1	Homo sapiens	Q8N0Z3	Y2H Prey Pooling	32296183
Intra	STXBP1	P61764	SPICE1	Homo sapiens	Q8N0Z3	Validated Y2H	32296183
Intra	STXBP1	P61764	SPICE1	Homo sapiens	Q8N0Z3	Y2H Array	32296183
Intra	STXBP1	P61764	NCOR1	Homo sapiens	O75376	Y2H Array	32814053
Intra	STXBP1	P61764	NCOR1	Homo sapiens	O75376	Validated Y2H	32814053
Intra	STXBP1	P61764	NCOR1	Homo sapiens	O75376	Y2H Pooling	32814053
Intra	STXBP1	P61764	HSPA8	Homo sapiens	P11142	Anti Tag CoIP	25910212
Intra	STXBP1	P61764	STX11	Homo sapiens	O75558	Y2H Array	25910212
Intra	STXBP1	P61764	STX11	Homo sapiens	O75558	Validated Y2H	25910212
Intra	STXBP1	P61764	STX11	Homo sapiens	O75558	Y2H Bait-Prey Pool	25910212
Intra	STXBP1	P61764	STX5	Homo sapiens	Q13190	Validated Y2H	32296183
Intra	STXBP1	P61764	STX5	Homo sapiens	Q13190	Y2H Array	32296183
Intra	STXBP1	P61764	STX5	Homo sapiens	Q13190	Validated Y2H	25910212
Intra	STXBP1	P61764	STX5	Homo sapiens	Q13190	Y2H Bait-Prey Pool	25910212
Intra	STXBP1	P61764	STX5	Homo sapiens	Q13190	Y2H Array	25910212
Intra	STXBP1	P61764	STX5	Homo sapiens	Q13190	Y2H Prey Pooling	32296183
Intra	STXBP1	P61764	BRME1	Homo sapiens	Q0VDD7	Y2H Bait-Prey Pool	25910212
Intra	STXBP1	P61764	BRME1	Homo sapiens	Q0VDD7	Validated Y2H	25910212
Intra	STXBP1	P61764	BRME1	Homo sapiens	Q0VDD7	Y2H Array	25910212
Intra	STXBP1	P61764	SYTL4	Homo sapiens	Q96C24	Y2H Prey Pooling	32296183
Intra	STXBP1	P61764	SYTL4	Homo sapiens	Q96C24	Validated Y2H	32296183
Intra	STXBP1	P61764	SYTL4	Homo sapiens	Q96C24	Y2H Array	32296183
Intra	STXBP1	P61764	MEOX2	Homo sapiens	P50222	Validated Y2H	25910212
Intra	STXBP1	P61764	MEOX2	Homo sapiens	P50222	Y2H Bait-Prey Pool	25910212
Intra	STXBP1	P61764	MEOX2	Homo sapiens	P50222	Y2H Array	25910212
Intra	STXBP1	P61764	STX19	Homo sapiens	Q8N4C7	Y2H Array	25910212
Intra	STXBP1	P61764	STX19	Homo sapiens	Q8N4C7	Validated Y2H	25416956
Intra	STXBP1	P61764	STX19	Homo sapiens	Q8N4C7	Validated Y2H	32296183
Intra	STXBP1	P61764	STX19	Homo sapiens	Q8N4C7	Y2H Array	32296183
Intra	STXBP1	P61764	STX19	Homo sapiens	Q8N4C7	Y2H Prey Pooling	32296183
Intra	STXBP1	P61764	STX19	Homo sapiens	Q8N4C7	Validated Y2H	25910212
Intra	STXBP1	P61764	STX19	Homo sapiens	Q8N4C7	Y2H Bait-Prey Pool	25910212
Intra	STXBP1	P61764	DRD4	Homo sapiens	P21917	Y2H Pooling	32814053
Intra	STXBP1	P61764	DRD4	Homo sapiens	P21917	Validated Y2H	32814053
Intra	STXBP1	P61764	DRD4	Homo sapiens	P21917	Y2H Array	32814053
Intra	STXBP1	P61764	MAPK1	Homo sapiens	P28482	Y2H Array	32296183
Intra	STXBP1	P61764	MAPK1	Homo sapiens	P28482	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant STXBP1 Proteins

Cat. No.	상품명	Accession	Purity
HY-P77092	Syntaxin-BP1 Protein, Human (sf9, His-GST)	P61764 (M1-S594)	≥ 85%, as determined by reducing SDS-PAGE.

STXBP1 Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P82875	Syntaxin Binding Protein 1 Antibody (YA2620)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 4	DEE4 Epileptic Encephalopathy, Early Infantile, 4 Eiee4 Early Infantile Epileptic Encephalopathy 4 Stxbp1-Related Early-Onset Encephalopathy Early Myoclonic Encephalopathy Developmental And Epileptic Encephalopathy, 4 Stxbp1 Disorders Stxbp1 Encephalopathy Developmental And Epileptic Encephalopathy, Type 4 Early-Infantile Epileptic Encephalopathy 4 Stxbp1 Encephalopathy With Epilepsy Stxbp1 Epileptic Encephalopathy Stxbp1-Related Developmental And Epileptic Encephalopathy Stxbp1-Related Epileptic Encephalopathy Eme Neonatal Epilepsy With Suppression-Burst Pattern Encephalopathy, Epileptic, Early Infantile, Type 4
Ohtahara Syndrome
Infantile Epilepsy Syndrome	Infantile Epilepsy
Tremor	Medicament-Induced Tremor Medication-Induced Postural Tremor
Stxbp1-Related Encephalopathy
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
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
Spastic Ataxia	Spax Ataxia, Spastic
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Spasticity
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
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
9q33.3q34.11 Microdeletion Syndrome	Del(9)(Q33.3q34.11) Deletion 9q33.3q34.11 Monosomy 9q33.3q34.11
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Encephalopathy	Brain Diseases Encephalopathies Toxic Encephalopathy Toxic Brain Fever Toxic Brain Inflammation Toxic Brain Stem Inflammation Toxic Cerebral Fever Toxic Cerebrospinal Fever Toxic Cerebrospinal Inflammation Encephalopathy Nec Encephalopathy Nos Encephalopathy Disease Encephalopathy Syndrome
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Bruxism	Sleep Bruxism Sleep-Related Bruxism Bruxism - Teeth Grinding Grinding Teeth Sleep Related Bruxism Teeth Grinding Sleep Related Teeth Grinding
Infancy Electroclinical Syndrome
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
Neonatal Period Electroclinical Syndrome
Childhood Electroclinical Syndrome
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Epilepsy, Pyridoxine-Dependent	Pyridoxine-Dependent Epilepsy PDE Pyridoxine Dependency With Seizures Vitamin B6-Dependent Seizures EPD Aasa Dehydrogenase Deficiency Antiquitin Deficiency Pyridoxine Dependency Glutamate Decarboxylase Deficiency Pyridoxine-Dependent Seizures Deficiency Of Glutamate Decarboxylase
Developmental And Epileptic Encephalopathy 2	Epileptic Encephalopathy, Early Infantile, 2 DEE2 Eiee2 Issx2 Developmental And Epileptic Encephalopathy, 2 Infantile Spasm Syndrome, X-Linked 2 Early Infantile Epileptic Encephalopathy 2 X-Linked Infantile Spasm Syndrome 2 Atypical Rett Syndrome Cdkl5-Related Atypical Rett Syndrome Hanefeld Variant Infantile Spasm Syndrome X-Linked 2 Rett Syndrome Early-Onset Seizure Variant Rett Syndrome Variant With Infantile Spasms Encephalopathy, Epileptic, Early Infantile, Type 2
Ceroid Lipofuscinosis, Neuronal, 5	Neuronal Ceroid Lipofuscinosis 5 CLN5 Cln5 Disease Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis Vlincl Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset Neuronal Ceroid Lipofuscinosis 5 Variable Age Of Onset Cln5 Disease, Adult Cln5 Disease, Juvenile Cln5 Disease, Late Infantile Neuronal Ceroid Lipofuscinosis Finnish Variant Finnish Vlincl Jansky-Bielschowsky Disease Late-Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Late-Infantile Finnish Neuronal Ceroid Lipofuscinosis 5 With Variable Age At Onset Lipofuscinosis, Ceroid, Neuronal, Type 5 Late-Infantile Neuronal Ceroid Lipfuscinosis Ceroid Lipofuscinosis, Neuronal, 6
Developmental And Epileptic Encephalopathy 21	DEE21 Epileptic Encephalopathy, Early Infantile, 21 Eiee21 Developmental And Epileptic Encephalopathy, 21 Early Infantile Epileptic Encephalopathy 21 Encephalopathy, Epileptic, Early Infantile, Type 21
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Developmental And Epileptic Encephalopathy 87	DEE87 Epileptic Encephalopathy, Early Infantile, 87 Eiee87 Developmental And Epileptic Encephalopathy, 87 Early Infantile Epileptic Encephalopathy 87
Benign Familial Neonatal Epilepsy	Familial Neonatal Seizures Bfns Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy Benign Neonatal Familial Familial Benign Neonatal Convulsions Benign Neonatal Familial Convulsions Familial Benign Neonatal Epilepsy Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion
Partington Syndrome	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome Mrxs1 Mrx36 Intellectual Developmental Disorder, X-Linked, Syndromic 1 Partington Disease Pdr Partington-Mulley Syndrome Russell-Silver Syndrome, X-Linked Mental Retardation, X-Linked, Syndromic 1 Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures Mental Retardation, X-Linked 36 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations X-Linked Russell-Silver Syndrome Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome Intellectual Disability, X-Linked, Syndromic 1 Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures Partington X-Linked Intellectual Disability Syndrome X-Linked Intellectual Deficit-Dystonia-Dysarthria X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures Familial Cutaneous Amyloidosis X-Linked Cutaneous Amyloidosis Xlpdr X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome Pigmentary Disorder, Reticulate, With Systemic Manifestations
Benign Neonatal Seizures	Benign Neonatal Epilepsy Benign Familial Neonatal Seizures Benign Neonatal Convulsions Benign Familial Neonatal Convulsions Benign Familial Neonatal Epilepsy Bfne Bfns Seizures, Benign Neonatal Neonatal Convulsions Benign Epilepsy, Benign Neonatal Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion Familial Benign Neonatal Epilepsy
Landau-Kleffner Syndrome	Acquired Epileptic Aphasia Lks Acquired Aphasia With Convulsive Disorder Acquired Epileptiform Aphasia Landau Kleffner Syndrome Childhood Epileptic Aphasia
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Schuurs-Hoeijmakers Syndrome	SHMS Pacs1-Related Syndrome Mrd17 Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome Intellectual Developmental Disorder, Autosomal Dominant 17 Autosomal Dominant Intellectual Disability-17 Autosomal Dominant Mental Retardation 17 Pacs1 Syndrome Mental Retardation, Autosomal Dominant 17
Aicardi Syndrome	AIC Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality Agenesis Of Corpus Callosum With Chorioretinal Abnormality Aicardi'S Syndrome Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities Callosal Agenesis And Ocular Abnormalities Chorioretinal Anomalies With Acc
Holoprosencephaly 11	HPE11 Holoprosencephaly-11 Holoprosencephaly, Type 11
Pitt-Hopkins-Like Syndrome 2	PTHSL2 Mesh D006985 Mesh D008607
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Partial Motor Epilepsy	Epilepsy, Partial, Motor Epilepsy, Focal Motor Focal Motor Seizure
Developmental And Epileptic Encephalopathy 9	Efmr Epileptic Encephalopathy, Early Infantile, 9 Eiee9 DEE9 Juberg-Hellman Syndrome Epilepsy, Female-Restricted, With Mental Retardation Developmental And Epileptic Encephalopathy, 9 Early Infantile Epileptic Encephalopathy 9 Early Infantile Female-Limited Epilecptic Encephalopathy Female Restricted Epilepsy With Mental Retardation Juberg Hellman Syndrome Pcdh19-Related Female-Limited Epilepsy Epilepsy And Intellectual Disability Limited To Females Epilepsy, Female Restricted, With Intellectual Disability Familial Epilepsy And Intellectual Disability Limited To Females Female Restricted Epilepsy With Intellectual Delays Pcdh19-Related Fle Pcdh19-Related Infantile Epileptic Encephalopathy Female Restricted Epilepsy With Intellectual Disability Encephalopathy, Epileptic, Early Infantile, Type 9
Complex Partial Epilepsy	Epilepsy, Complex Partial Complex Partial Epileptic Seizure Epilepsy, Psychomotor Psychomotor Epilepsy
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Glycine Encephalopathy	Non-Ketotic Hyperglycinemia Nonketotic Hyperglycinemia NKH GCE Hyperglycinemia, Nonketotic Hyperglycinemia Nonketotic Infantile Glycine Encephalopathy Encephalopathy, Glycine Glycine Synthase Deficiency Nka Neonatal Glycine Encephalopathy Classic Glycine Encephalopathy Neonatal Nkh Neonatal Non-Ketotic Hyperglycinemia Infantile Nkh Infantile Non-Ketotic Hyperglycinemia Non-Ketotic Hyperglycinaemia Glycine Cleavage Deficiency Nonketotic Hyperglycinaemia
Epilepsy With Generalized Tonic-Clonic Seizures	Tonic-Clonic Epilepsy Epileptic Seizures, Tonic-Clonic Grand Mal Epilepsy Epilepsy, Tonic-Clonic
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Alcohol-Related Neurodevelopmental Disorder	Static Encephalopathy Arnd Encephalopathy, Static Alcohol Related Neurodevelopmental Disorder
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Developmental And Epileptic Encephalopathy 1	Epileptic Encephalopathy, Early Infantile, 1 Infantile Epileptic-Dyskinetic Encephalopathy DEE1 Eiee1 Issx1 Xmesid X-Linked Infantile Spasm Syndrome 1 X-Linked Infantile Spasm Syndrome X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome Developmental And Epileptic Encephalopathy, 1 Infantile Epileptic Dyskinetic Encephalopathy Infantile Spasm Syndrome, X-Linked 1 West Syndrome, X-Linked Ohtahara Syndrome, X-Linked Early Infantile Epileptic Encephalopathy 1 Early Infantile Epileptic Encephalopathy-1 Issx X-Linked Ohtahara Syndrome X-Linked West Syndrome Infantile Spasm Syndrome X-Linked 1 Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity Ohtahara Syndrome X-Linked West Syndrome X-Linked Encephalopathy, Epileptic, Early Infantile, Type 1
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
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
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

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 (2)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS13989	STXBP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21950	Stxbp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	STXBP1	VGNC	VGNC:78049
Rattus norvegicus	STXBP1	RGD	RGD:3785
Canis familiaris	STXBP1	VGNC	VGNC:46959
Felis catus	STXBP1	VGNC	VGNC:65818
Mus musculus	STXBP1	MGD	MGI:107363
Bos taurus	STXBP1	VGNC	VGNC:35445