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基因注释:TRPM1

官方信息

官方名称:transient receptor potential cation channel subfamily M member 1

功能摘要:This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011].

作为靶基因的剪接因子
  • Tardbp 综合评分: 0.150 · 证据 1 条
关联疾病

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