Vps13b
收藏rgd.mcw.edu2025-01-21 收录
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1322508
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资源简介：
Enables phosphatidylinositol-3-phosphate binding activity. Involved in acrosome assembly; central nervous system development; and maintenance of lens transparency. Acts upstream of or within several processes, including dentate gyrus development; head morphogenesis; and social behavior. Located in acrosomal membrane. Used to study Cohen syndrome and cataract. Human ortholog(s) of this gene implicated in Cohen syndrome. Orthologous to human VPS13B (vacuolar protein sorting 13 homolog B). [provided by Alliance of Genome Resources, Nov 2024]
该基因激活磷脂酰肌醇-3-磷酸结合活性，参与精巢组装、中枢神经系统发育及晶状体透明度的维持。其在多个过程中发挥上游作用，包括齿状回发育、头部形态发生及社会行为的调节。定位于精巢膜上。被用于研究科恩综合征和白内障。与科恩综合征相关的基因的人类同源基因。与人类VPS13B（溶酶体蛋白分选13同源蛋白B）同源。[由基因组资源联盟提供，2024年11月]
提供机构：
Rat Genome Database
