Gene Symbol | TRPM1 |
Entrez Gene ID | 4308 |
Full Name | transient receptor potential cation channel subfamily M member 1 |
Synonyms | CSNB1C,LTRPC1,MLSN1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3) |