人 STXBP1 (NM_001032221) cDNA克隆

Accession: NM_001032221
基因名称: STXBP1
基因别名: P67; NSEC1; UNC18; RBSEC1; MUNC18-1
基因描述: Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1785 (查看编码区序列)
翻译后氨基酸长度: 594 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region that causes a frameshift, compared to variant 1. The resulting isoform (b) has a distinct and shorter C-terminus, compared to isoform a.
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G112405 人 STXBP1 (NM_001032221) cDNA克隆 pDONR223 2ug质粒 点击询价

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]