C3AR1

Chr 12

complement C3a receptor 1

Also known as: AZ3B, C3AR, HNFAG09

NCBI Gene: 719 ENSG00000171860 UniProt: Q16581 OMIM: 605246

The encoded protein is a G protein-coupled receptor for complement anaphylatoxin C3a that mediates chemotaxis, granule enzyme release, and superoxide anion production as part of the inflammatory response. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, affecting the central nervous system with seizures typically beginning in infancy or early childhood. The gene shows very low constraint against loss-of-function variants, consistent with recessive inheritance.

OMIM ResearchSummary from RefSeq, UniProt

C3a is an anaphylatoxin released during activation of the complement system. The protein encoded by this gene is an orphan G protein-coupled receptor for C3a. Binding of C3a by the encoded receptor activates chemotaxis, granule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.58

LOEUF

Multiple*

Mechanism· predicted