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

rs7182946 in TRPM1 gene and Age related macular degeneration PMID 28813576 2017 Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.

rs149916999 in TRPM1 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs11635657 in TRPM1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30130595 2018 Pilot genome-wide association study identifying novel risk loci for type 2 diabetes in a Maya population.

rs150441866 in TRPM1 gene and NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C PMID 20300565 2010 TRPM1 mutations are associated with the complete form of congenital stationary night blindness.

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

PMID 19878917 2009 Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

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

rs11070764 in TRPM1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.