GPRC6A

Chr 6

G protein-coupled receptor class C group 6 member A

Also known as: GPCR, bA86F4.3

NCBI Gene: 222545 ENSG00000173612 UniProt: Q5T6X5

GPRC6A encodes a G protein-coupled receptor that detects amino acids (particularly basic amino acids like lysine and arginine), osteocalcin, and divalent cations, coordinating nutritional and hormonal signals including testosterone production. Mutations cause autosomal recessive febrile seizures and intellectual disability. The gene shows very low constraint against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.30

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)