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Gene : C4A Homo sapiens

Name  ? complement C4A (Rodgers blood group) Cytological Location  6p21.33
Brief Description  complement C4A (Rodgers blood group)
Description  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]
  • synonyms:
  • C4S,
  • uc011iuc.3,
  • C4A4,
  • RG,
  • C4A2,
  • C4A6,
  • CO4,
  • C4,
  • C4A2,
  • CO4,
  • NM_007293,
  • C4A3,
  • X77491,
  • C4B,
  • CPAMD2,
  • RG,
  • C4AD,
  • complement component 4A,
  • CPAMD2,
  • C4A3,
  • L26261,
  • complement component 4A (Rodgers blood group),
  • OTTHUMG00000031186,
  • C4A4,
  • C4S,
  • C4A,
  • C4A6,
  • AY224378,
  • M14823,
  • HGNC:1323,
  • C4
  • identifiers:
  • 720,
  • ENSG00000244731,
  • C4A

Genome feature

Region: gene ? Length: 20625  
Location: 6:31982057-32002681 Cyto location: 6p21.33


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Disease

2 Diseases

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134540 SN Ps

5 Cross References

18 Data Sets

14 Homologues

0 Located Features

97 Rna Seq Results