Mc1r - melanocortin 1 receptor Gene

中文名称：黑皮质素 1 受体

种属: Mus musculus

同用名: e; Tob; Mcr1; Mshra

关于 Mc1r

功能概要

该基因编码的蛋白可启动促黑素细胞激素受体活性。参与细胞内信号转导；细胞内信号转导的正向调节；和 RNA 聚合酶 II 对转录的正调控。作用于黑色素生物合成过程的上游或内部；色素沉着;和疼痛的感官知觉。预测位于膜中。预计是膜的组成部分。预计在细胞质和质膜中有活性。在输精管中表达；附睾;食管;和皮肤。该基因的人类直系同源物与家族性黑色素瘤有关；严重抑郁症;黑色素瘤; II型眼皮肤白化病；和色素沉着病。与人类 MC1R（黑皮质素 1 受体）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables melanocyte-stimulating hormone receptor activity. Involved in intracellular signal transduction; positive regulation of intracellular signal transduction; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within melanin biosynthetic process; pigmentation; and sensory perception of pain. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in cytoplasm and plasma membrane. Is expressed in ductus deferens; epididymis; esophagus; and skin. Human ortholog(s) of this gene implicated in familial melanoma; major depressive disorder; melanoma; oculocutaneous albinism type II; and pigmentation disease. Orthologous to human MC1R (melanocortin 1 receptor). [provided by Alliance of Genome Resources, Apr 2022]