QRFPR

Chr 4

pyroglutamylated RFamide peptide receptor

Also known as: AQ27, GPR103, SP9155

NCBI Gene: 84109 ENSG00000186867 UniProt: Q96P65 OMIM: 606925

The QRFPR protein functions as a G protein-coupled receptor for the orexigenic neuropeptide QRFP, modulating adenylate cyclase activity and intracellular calcium levels. Mutations in this gene cause autosomal recessive congenital hypogonadotropic hypogonadism, which presents with delayed or absent puberty and reproductive dysfunction. The gene shows extremely high constraint against loss-of-function variants (pLI near 1.0), indicating that complete loss of protein function is poorly tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Enables G protein-coupled receptor activity. Involved in G protein-coupled receptor signaling pathway. Predicted to be located in non-motile cilium. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.45

LOEUF

Multiple*

Mechanism· predicted