PRODH2 - proline dehydrogenase 2 Gene

中文名称：脯氨酸脱氢酶 2

种属: Homo sapiens

同用名: HYPDH; HSPOX1

关于 PRODH2

功能概要

由该基因编码的蛋白质催化反式-4-羟基-L-脯氨酸分解代谢的第一步，反式-4-羟基-L-脯氨酸是一种通过食物摄入和胶原蛋白更新获得的氨基酸衍生物。这种分解代谢的下游产物之一是乙醛酸盐，乙醛酸盐在乙醛酸盐代谢紊乱的人群中会导致草酸盐水平升高和草酸钙肾结石的形成。因此，该基因可作为原发性高草酸尿症 (PH) 的治疗靶点。该基因类似于脯氨酸脱氢酶 (氧化酶) 1，一种催化脯氨酸分解代谢第一步的线粒体酶。[RefSeq 提供，2017 年 1 月]

The protein encoded by this gene catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial Enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017]