人 STXBP2 (NM_006949) cDNA克隆

Accession: NM_006949
基因名称: STXBP2
基因别名: FHL5; UNC18B; Hunc18b; UNC18-2; pp10122; MUNC18-2
基因描述: Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1782 (查看编码区序列)
翻译后氨基酸长度: 593 (查看氨基酸序列)
Transcript Variant: This variant (1) uses an alternate in-frame splice site in the coding region, compared to variant 3. The encoded isoform (a) is shorter than isoform c.
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G112392 人 STXBP2 (NM_006949) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]