TRPM3

Date of Report

Feb 04, 2025

Full Name

Transient Receptor Potential Cation Channel Subfamily M Member 3

Location
Chromosome 9 (9q21.12-9q21.13)
TRPM3-9q21.12-9q21.13.png

Function

This protein encoded by this gene is part of the transient receptor potential channel family and plays important roles in cellular calcium signaling and homeostasis, specifically mediating calcium entry [provided by RefSeq, Jul 2008].

Database Links

GeneCards: TRPM3

NCBI Gene: 80036

OMIM: 608961

UniProtKB/Swiss-Prot: Q9HCF6

Clinical Significance

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

Gene TRPM3
Inheritance Pattern Unknown
Position (hg19) chr9:g.73225545C>A
Transcript NM_020952.6
DNA Change c.2152G>T
Protein Change p.Val718Leu
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