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🧬 基因注释:MC1R

📝 官方信息

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].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.510 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPK 综合评分: 0.362 · 证据 2 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • U2af2 综合评分: 0.329 · 证据 1 条
  • U2af1 综合评分: 0.310 · 证据 1 条
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • SRSF9 综合评分: 0.300 · 证据 1 条
  • Rbmx 综合评分: 0.286 · 证据 1 条
  • SF3A3 综合评分: 0.262 · 证据 1 条
  • EWSR1 综合评分: 0.250 · 证据 2 条
  • RBM10 综合评分: 0.250 · 证据 2 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • TIA1 综合评分: 0.250 · 证据 1 条
  • Rnps1 综合评分: 0.198 · 证据 1 条
  • CSTF2T 综合评分: 0.162 · 证据 2 条
  • CPSF4 综合评分: 0.150 · 证据 2 条
  • CPSF6 综合评分: 0.150 · 证据 2 条
🏥 关联疾病

该基因暂无关联疾病记录

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