U.S. flag

An official website of the United States government

GTR Home > Genes

TRPM1 transient receptor potential cation channel subfamily M member 1

Gene ID: 4308, updated on 4-Jan-2025
Gene type: protein coding
Also known as: MLSN1; CSNB1C; LTRPC1

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. [provided by RefSeq, Oct 2011]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Congenital stationary night blindness 1C
MedGen: C2750747OMIM: 613216GeneReviews: Not available
See labs
Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.
GeneReviews: Not available
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available

Genomic context

Location:
15q13.3
Sequence:
Chromosome: 15; NC_000015.10 (31001065..31161160, complement)
Total number of exons:
29

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.