Alt. symbols: C82

Approved name: complement C8 beta chain
Alt. names: complement component 8, beta polypeptide

Location: 1p32.2: 56929207 - 56974383 (-)
Gene type: protein_coding, 10 transcripts.

Scores: LoFtool: 0.431000 | pLI: 0.00000000 | LOEUF: 1.334

HGNC: 1353

NCBI: 732, RefSeq: NG_007285.1

Ensembl: ENSG00000021852.14

LRG_31 | Status: public

OMIM: 120960

Expression | ProteinAtlas

The complement system forms a key part of the innate immune response to pathogens, along with serving key inflammatory functions, providing crosstalk with the adaptive immune system, and removing potentially immunogenic cellular debris. The eighth component of complement (C8) belongs to the late-acting complement proteins (C5-C9) forming the membrane attack complex. C8 is a serum protein that consists of 3 nonidentical subunits arranged asymmetrically as a disulfide-linked alpha-gamma dimer (C8A and C8G) with a noncovalently associated beta chain (C8B); each component is encoded by a different gene.

Biallelic nonsense and frameshift mutations are associated with autosomal recessive C8 deficiency, type II [OMIM: 613789]. Patients with C8 deficiency suffer from recurrent Neisserial infections, predominantly meningococci of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years. One heterozygous missense variant in C8B was reported for a young girl with lupus-like features of malar rash, arthritis, thrombocytopenia, he molytic anemia, recurrent soft tissue and lung infections, ANA positivity, occasionally low serum C3 and C4 levels and low C8 level, but without further functional validation (PMID: 33563058). [Load More]