TRPM1

Date of Report

Feb 04, 2025

Full Name

Transient Receptor Potential Cation Channel Subfamily M Member 1

Location

Chromosome 15 (15q13.3)

TRPM1-15q13.3.png

Function

This gene encodes for a protein that plays a role in melanin synthesis and is a permeable cation channel expressed in melanocytes [provided by RefSeq, Oct 2011].

Database Links

GeneCards: TRPM1

MedlinePlus Genetics: TRPM1

NCBI Gene: 4308

OMIM: 603576

UniProtKB/Swiss-Prot: Q7Z4N2

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant.

Gene TRPM1

Inheritance Pattern Unknown

Position (hg19) chr15:g.31359262_ 31359265del

Transcript NM_002420.6

DNA Change c.552+3_552+6del

Protein Change N/A

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