Synonyms:DEE4, ENTREZ:6812, HGNC:11444, MIM:602926, MUNC18-1, N-Sec1, NM_001032221, NM_001374306, NM_001374307, NM_001374308, NM_001374309, NM_001374310, NM_001374311, NM_001374312, NM_001374313, NM_001374314, NM_001374315, NM_003165, NP_001027392, NP_001361235, NP_001361236, NP_001361237, NP_001361238, NP_001361239, NP_001361240, NP_001361241, NP_001361242, NP_001361243, NP_001361244, NP_003156, NSEC1, P67, RBSEC1, STXBP1, UNC18, syntaxin binding protein 1, unc-18A, unc18-1
Omim:OMIM:602926
Id:ENSG00000136854
Hgnc:HGNC:11444
Description:syntaxin binding protein 1
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]