ACP2 - acid phosphatase 2, lysosomal Gene

中文名称：酸性磷酸酶 2，溶酶体

种属: Homo sapiens

同用名: LAP

关于 ACP2

功能概要

该基因编码的蛋白质属于组氨酸酸性磷酸酶家族，可将正磷酸单酯水解为醇和磷酸盐。这种蛋白质定位于溶酶体膜，在化学和遗传上与红细胞酸性磷酸酶不同。缺乏该基因的小鼠表现出多种缺陷，包括骨骼结构改变、溶酶体储存缺陷和癫痫发作倾向增加。该基因在小鼠中的酶促失活等位基因显示出严重的生长迟缓、毛囊异常和共济失调样表型。已发现该基因的可变剪接转录物变体。还预计通过终止密码子通读机制使用替代的框内翻译终止密码子来产生 C 末端扩展的同种型。[RefSeq 提供，2017 年 10 月]

The protein encoded by this gene belongs to the histidine Acid Phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell Acid Phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]