Porcn - porcupine O-acyltransferase Gene

中文名称：豪猪 O-酰基转移酶

种属: Mus musculus

同用名: Ppn; Mg61; porc; Mporc; mMg61; DXHXS7465e; 2410004O13Rik

关于 Porcn

功能概要

该基因编码的蛋白可启动 Wnt 蛋白结合活性和棕榈油酰转移酶活性。参与Wnt信号通路；蛋白质棕榈酰化；和突触后膜神经递质受体水平的调节。作用于经典 Wnt 信号通路和糖蛋白代谢过程的上游或内部。位于内质网和谷氨酸能突触中。是内质网膜的组成部分。 AMPA 谷氨酸受体复合物的一部分。以多种结构表达，包括前内脏内胚层；眼睛;泌尿生殖系统；神经系统;和原条。用于研究局灶性真皮发育不全。该基因的人类直系同源物与局灶性真皮发育不全有关。与人类 PORCN（豪猪 O-酰基转移酶）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables Wnt-protein binding activity and palmitoleoyltransferase activity. Involved in Wnt signaling pathway; protein palmitoleylation; and regulation of postsynaptic membrane neurotransmitter receptor levels. Acts upstream of or within canonical Wnt signaling pathway and glycoprotein metabolic process. Located in endoplasmic reticulum and glutamatergic synapse. Is integral component of endoplasmic reticulum membrane. Part of AMPA glutamate receptor complex. Is expressed in several structures, including anterior visceral endoderm; eye; genitourinary system; nervous system; and primitive streak. Used to study focal dermal hypoplasia. Human ortholog(s) of this gene implicated in focal dermal hypoplasia. Orthologous to human PORCN (Porcupine O-acyltransferase). [provided by Alliance of Genome Resources, Apr 2022]