Gene: LOC105370752

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: TRPM1

Alternate names for this Gene: CSNB1C|LTRPC1|MLSN1

Gene 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q13.3

Description of this Gene: transient receptor potential cation channel subfamily M member 1

Type of Gene: protein-coding

rs369484186 in LOC105370752;TRPM1 gene and NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C PMID 19878917 2009 Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

PMID 19896113 2009 TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

PMID 19896109 2009 Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.