菜单 基因医生

这个基因编码一个氧固醇结合蛋白（osbp）家族的成员，一组细胞内的脂质受体。大多数成员包含一个N端的pleckstrin同源结构域和一个高度保守的C端OSBP样甾醇结合结构域，尽管有些成员只包含甾醇结合结构域这个家族成员的功能是胆固醇转移蛋白，调节高尔基结构和功能。多个转录变体，其中大多数编码不同的亚型，已经被鉴定。在第3、11和12号染色体上发现了相关的假基因[由RefSeq提供，2010年7月]
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]