PCMT1 - protein-L-isoaspartate (D-aspartate) O-methyltransferase Gene

中文名称：蛋白质-L-异天冬氨酸 (D-天冬氨酸) O-甲基转移酶

种属: Homo sapiens

同用名: PIMT

关于 PCMT1

功能概要

该基因编码 II 类蛋白质羧基甲基转移酶的成员。编码的酶通过识别并将自发脱酰胺产生的 D-天冬氨酰和 L-异天冬氨酰残基转化回正常的 L-天冬氨酰形式，在蛋白质修复中发挥作用。编码的蛋白质可能在阿尔茨海默氏病的发病机制中发挥保护作用，并且该基因中的单核苷酸多态性与脊柱裂和卵巢早衰有关。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 10 月]

This gene encodes a member of the type II class of protein carboxyl methyltransferase Enzymes. The encoded Enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer's disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]