transient receptor potential cation channel subfamily M member 1
Synonyms
CSNB1C
long transient receptor potential channel 1
Biotype
protein coding gene
Automated Description
Enables calcium channel activity. Involved in several processes, including G protein-coupled glutamate receptor signaling pathway; calcium ion import across plasma membrane; and visual perception. Located in endoplasmic reticulum. Implicated in congenital stationary night blindness and congenital stationary night blindness 1C.
RGD Description
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]