SPATA18 - spermatogenesis associated 18 Gene

中文名称：精子发生相关 18

种属: Homo sapiens

同用名: Mieap; SPETEX1

关于 SPATA18

功能概要

该基因编码一种 p53 诱导蛋白，能够诱导线粒体内的溶酶体样细胞器消除氧化的线粒体蛋白，从而有助于线粒体质量控制。线粒体质量控制失调与癌症和退行性疾病有关。编码的蛋白质通过与线粒体外膜上的 B 细胞淋巴瘤 2 相互作用蛋白 3 和 B 细胞淋巴瘤 2 相互作用蛋白 3 的相互作用介导溶酶体样线粒体细胞器的积累，从而允许溶酶体蛋白从细胞质转移到线粒体基质.可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 9 月]

This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with Cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]