GBA3 - glucosylceramidase beta 3 (gene/pseudogene) Gene

中文名称：葡萄糖神经酰胺酶 3 (基因/假基因)

种属: Homo sapiens

同用名: CBG; GLUC; KLRP; CBGL1

关于 GBA3

功能概要

该基因编码的蛋白质是一种胞质酶，可以水解多种糖苷。该酶在中性 pH 值下具有最高活性，主要在人肝、肾、肠和脾脏中表达。该基因是多态性假基因，最常见的等位基因是编码全长蛋白质的功能等位基因。一些个体含有导致编码区过早终止密码子的单核苷酸多态性，因此由于无法产生功能性全长蛋白质，该等位基因是假基因。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2022 年 4 月]

The protein encoded by this gene is a cytosolic Enzyme that can hydrolyze several types of glycosides. The Enzyme has its highest activity at neutral pH and is predominantly expressed in human liver, kidney, intestine, and spleen. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2022]