VWA3B - von Willebrand factor A domain containing 3B Gene

中文名称：含 von Willebrand 因子 A 域 3B

种属: Homo sapiens

同用名: SCAR22

关于 VWA3B

功能概要

该基因编码一种细胞内蛋白，该蛋白包含 von Willebrand 因子 A 型结构域。具有 VWA 结构域的细胞内蛋白被认为在转录、DNA 修复、核糖体和膜转运以及蛋白酶体中起作用。该基因的突变与脊髓小脑性共济失调、常染色体隐性遗传 22 相关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2017 年 5 月]

This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the Proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2017]