1. Gene
  2. STXBP1 - syntaxin binding protein 1 Gene

STXBP1 - syntaxin binding protein 1 Gene

Homo sapiens

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

Gene ID: 6812 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Sec1: Sec1 family (28 - 581)

  • 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 Reference
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. Product Name Accession Purity
HY-P77092 Syntaxin-BP1 Protein, Human (sf9, His-GST) P61764 (M1-S594) ≥95%

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

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