IDI2 - isopentenyl-diphosphate delta isomerase 2 Gene

中文名称：异戊烯二磷酸δ异构酶 2

种属: Homo sapiens

同用名: IPPI2

关于 IDI2

功能概要

该基因编码的蛋白质催化异戊烯基二磷酸转化为二甲基烯丙基二磷酸，后者是合成胆固醇和其他类异戊二烯的前体。该基因是祖先基因复制事件的产物，编码的蛋白质可能参与路易体病患者大脑皮层中α-突触核蛋白的聚集。此外，该位点的节段性拷贝数增加与散发性肌萎缩侧索硬化有关。[RefSeq 提供，2016 年 7 月]

The protein encoded by this gene catalyzes the conversion of isopentenyl diphosphate to dimethylallyl diphosphate, which is a precursor for the synthesis of Cholesterol and Other isoprenoids. This gene, which is a product of an ancestral gene duplication event, encodes a protein that may be involved in the aggregation of alpha-synuclein in the cerebral cortex of patients with Lewy body disease. In addition, segmental copy number gains in this locus have been associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2016]