Aliases for TRPM1 Gene
External Ids for TRPM1 Gene
Previous HGNC Symbols for TRPM1 Gene
Previous GeneCards Identifiers for TRPM1 Gene
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]
GeneCards Summary for TRPM1 Gene
TRPM1 (Transient Receptor Potential Cation Channel Subfamily M Member 1) is a Protein Coding gene. Diseases associated with TRPM1 include Night Blindness, Congenital Stationary , 1C, Autosomal Recessive and Congenital Stationary Night Blindness. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include ion channel activity and cation channel activity. An important paralog of this gene is TRPM3.
UniProtKB/Swiss-Prot for TRPM1 Gene
Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity). May act as a spontaneously active, calcium-permeable plasma membrane channel.