TRPM1 transient receptor potential cation channel subfamily M member 1
Gene ID: 4308, updated on 4-Jan-2025Gene type: protein coding
Also known as: MLSN1; CSNB1C; LTRPC1
- See all available tests in GTR for this gene
- Go to complete Gene record for TRPM1
- Go to Variation Viewer for TRPM1 variants
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
Description | Tests |
---|---|
Congenital stationary night blindness 1C | 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
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for TRPM1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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