🧬 基因注释：MC2R
📝 官方信息
官方名称：melanocortin 2 receptor
功能摘要：MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014].
🎯 作为靶基因的剪接因子
- HNRNPC 置信度: 2.0
🏥 关联疾病
该基因暂无关联疾病记录