ADGRA1

Chr 10

adhesion G protein-coupled receptor A1

Also known as: GPR123

NCBI Gene: 84435 ENSG00000197177 UniProt: Q86SQ6 OMIM: 612302

This gene encodes an adhesion G-protein-coupled receptor that functions as an orphan receptor, with related proteins in the family regulating sensory systems, blood pressure, immune responses, and development. Mutations in ADGRA1 cause autosomal recessive bilateral frontoparietal polymicrogyria, a cortical malformation disorder affecting brain development. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance requiring biallelic mutations to cause disease.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Mar 2014]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.71

LOEUF

Multiple*

Mechanism· predicted