C4A

Name

complement C4A (Chido/Rodgers blood group)

Type

protein-coding

Chromosome

HSCHR6_MHC_MCF_CTG1

Position

3,356,831–3,377,455 (+)

Aliases

C4, C4A2, C4A3, C4A4, C4A6, C4AD, C4S, CO4, CPAMD2, RG

Ensembl

ENSG00000244207

RefSeq RNA

NM_001252204.2, NM_007293.3

RefSeq protein

NP_001239133.1, NP_009224.2

This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014].

via MyGene.info

Gene · Ensembl

complement C4A (Chido/Rodgers blood group)

Symbol

C4A

Biotype

Protein coding

Organism

Homo sapiens

Location

Chr HSCHR6_MHC_DBB_CTG1:3,229,797-3,250,455

Strand

Forward (+)

Assembly

GRCh38