🧬 基因注释：MC1R
官方名称：melanocortin 1 receptor
功能摘要：This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008].
- CPSF4 置信度: 2.0
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- EWSR1 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- KHSRP 置信度: 2.0
- MBNL1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- CPSF1 置信度: 1.0
- NXF1 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbmx 置信度: 1.0
该基因暂无关联疾病记录