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PNPLA6 Q8IY17

含patatin样磷脂酶结构域蛋白6 (EC 3.1.1.5) (神经病靶酯酶)

蛋白质信息 (UniProt)

含patatin样磷脂酶结构域蛋白6 (EC 3.1.1.5) (神经病靶酯酶)

Q8IY17

功能描述

磷脂酶B,使细胞内磷脂酰胆碱(PtdCho)脱酰基,生成甘油磷脂酰胆碱(GroPtdCho)。该脱酰基反应发生在PtdCho的sn-2和sn-1位。催化几种天然膜相关脂质的水解(PubMed:11927584)。水解溶血磷脂和单酰甘油,优先水解1-酰基异构体而非2-酰基异构体。不催化二酰甘油、三酰甘油或脂肪酰胺的水解(PubMed:11927584)。 {ECO:0000269|PubMed:11927584, ECO:0000269|PubMed:15044461}。

组织特异性

Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain.

亚细胞定位

Endoplasmic reticulum membrane

关键词

Alternative splicing Disease variant Dwarfism Endoplasmic reticulum Glycoprotein Hereditary spastic paraplegia Hydrolase Hypogonadotropic hypogonadism Intellectual disability Lipid degradation