Full Name: Transient Receptor Potential Cation Channel Subfamily M Member 1
BACKGROUND: 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.
Synonyms: CSNB1C; LTRPC1; MLSN1
Research Areas: Signal Transduction
Pathways: Signal Transduction Pathway
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