GENETIC ENCYCLOPEDIA
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gene: C4A

id720
symbolC4A
organismHomo sapiens
full namecomplement C4A (Rodgers blood group)
summaryThis 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]
variant-disease

C4A, 2-BP INS, EX29 AND C4a deficiency

NM_001242823.2(C4B_2):c.2539G>T (p.Glu847Ter) AND not provided

GRCh37/hg19 6p21.33(chr6:31969589-32007227) AND Abnormality of esophagus morphology

GRCh38/hg38 6p21.33(chr6:31971993-32012974)x1 AND See cases

GRCh38/hg38 6p21.33(chr6:31996044-32040430)x3 AND See cases

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