C4A

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]

Description

Complement C4A (Rodgers blood group)

Tissue specificity

Tissue enhanced (adrenal gland, liver)

Predicted location

Secreted to blood

Protein family

Blood group antigen proteins
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

6 (31982057 - 32002681)

Ensembl ID

ENSG00000244731  (ver. 103.38)

Orthologs

-

UniProt

P0C0L4

neXtProt

NX_P0C0L4

Human splice variants

Protein structure