STXBP5L - syntaxin binding protein 5L Gene

中文名称：突触融合蛋白结合蛋白 5L

种属: Homo sapiens

同用名: LLGL4

关于 STXBP5L

功能概要

该基因编码的蛋白质类似于突触融合蛋白结合蛋白 5，包含十个 N 端 WD40 重复序列、四个可变区 WD40 重复序列和一个 C 端 R-SNARE 结构域。对小鼠和大鼠直系同源蛋白的研究表明，编码的蛋白可能抑制神经分泌细胞的胞吐作用，并可能负向调节胰岛素的分泌。该基因中的错义变异可能是在近亲血亲的两个兄弟姐妹中诊断出婴儿期神经退行性疾病的原因。[RefSeq 提供，2017 年 1 月]

The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of Insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]