PDCD6IP - programmed cell death 6 interacting protein Gene

中文名称：程序性细胞死亡 6 相互作用蛋白

种属: Homo sapiens

同用名: AIP1; ALIX; HP95; DRIP4; MCPH29

关于 PDCD6IP

功能概要

该基因编码一种蛋白质，该蛋白质在胞质分裂脱落阶段、腔内内体囊泡形成和包膜病毒出芽中的 ESCRT 通路中发挥作用。使用小鼠细胞的研究表明，这种蛋白质的过度表达可以阻止细胞凋亡。此外，该基因的产物以钙依赖性方式与细胞凋亡所需的蛋白质 PDCD6 基因的产物结合。该基因产物还与 endophilins 结合，后者是在内吞过程中调节膜形状的蛋白质。该基因产物和内皮素的过表达导致细胞质空泡化，这可能是防止细胞死亡的部分原因。已经为该基因发现了几种编码不同亚型的可变剪接转录物变体。已在 15 号染色体上鉴定出相关的假基因。[RefSeq 提供，2012 年 1 月]

This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block Apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for Apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]