MC5R

Chr 18

melanocortin 5 receptor

Also known as: MC2

NCBI Gene: 4161 ENSG00000176136 UniProt: P33032

The MC5R protein is a G protein-coupled receptor that binds melanocyte-stimulating hormones and ACTH, stimulating cAMP signaling pathways and playing essential roles in immune response, temperature regulation, and exocrine gland function. Mutations in MC5R have not been definitively associated with human disease, though the protein's functions suggest potential involvement in thermoregulatory, immune, or glandular disorders. The gene shows very low constraint against loss-of-function variants, indicating that complete loss of MC5R function may be well-tolerated in humans.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.84

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)