Syntaxin-Binding Protein 1

Alternative Names

  • STXBP1
  • UNC18, C. elegans, Homolog of, 1
  • MUNC18-1
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OMIM Number

602926

NCBI Gene ID

6812

Uniprot ID

P61764

Length

84,118 bases

No. of Exons

25

No. of isoforms

2

Protein Name

Syntaxin-binding protein 1

Molecular Mass

67569 Da

Amino Acid Count

594

Genomic Location

chr9:127,611,911-127,696,028

Gene Map Locus
9q34.11

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001032221.3:c.1359+1G>AUnited Arab EmiratesNC_000009.12:g.127676754G>APathogenicPathogenicDevelopmental and Epileptic Encephalopathy 4NG_016623.1:g.69548G>A; NM_001032221.3:c.1359+1G>A; NP_001027392.1:p.?796053370207435
NM_001032221.6:c.1099C>TUnited Arab EmiratesNC_000009.12:g.127673250C>TPathogenicLikely Pathogenic, PathogenicDevelopmental and Epileptic Encephalopathy 4NG_016623.1:g.66044C>T; NM_001032221.6:c.1099C>T; NP_001027392.1:p.Arg367Ter796053366207429
NM_001032221.6:c.1315A>TUnited Arab EmiratesNC_000009.12:g.127676709A>TLikely PathogenicLikely PathogenicDevelopmental and Epileptic Encephalopathy 4NG_016623.2:g.69799A>T; NM_001032221.6:c.1315A>T; NP_001027392.1:p.Ile439Phe1810253
NM_001032221.6:c.1651C>TUnited Arab EmiratesNC_000009.12:g.127682509C>TPathogenicLikely PathogenicDevelopmental and Epileptic Encephalopathy 4NG_016623.1:g.75303C>T; NM_001032221.6:c.1651C>T; NP_001361240.1:p.Arg537Cys796053373207440
NM_001032221.6:c.560C>GUnited Arab EmiratesNC_000009.12:g.127663335C>GLikely PathogenicDevelopmental and Epileptic Encephalopathy 4NG_016623.1:g.56129C>G; NM_001032221.6:c.560C>G; NP_001027392.1:p.Pro187Arg
NM_001032221.6:c.910_911delUnited Arab EmiratesNC_000009.12:g.127669905_127669906delLikely PathogenicDevelopmental and Epileptic Encephalopathy 4NM_001032221.6:c.910_911del; NP_001027392.1:p.Thr304Profs*9
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