LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Italian
Study Design
C4 alleles were examined in healthy aged people (77 centenarians and 89 elderly subjects)
Conclusions
The frequencies of C4A alleles were similar in the studied cohorts. For C4B null allele (C4BQ0) a trend toward an increase in the older cohort was observed, although the differences were not statistically significant after correction for multiple testing.
Identifier
C4A
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser

Gene details

HGNC symbol
C4A
Aliases
C4; RG; C4S; CO4; C4A2; C4A3; C4A4; C4A6; C4AD; CPAMD2 
Common name
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]
OMIM
120810
Ensembl
ENSG00000244731
UniProt/Swiss-Prot
CO4A_HUMAN
Entrez Gene
720
UniGene
534847
HapMap
View on HapMap

Homologs in model organisms

No homologs found

In other databases

GenAge microarray genes
  • This gene is present as C4A

References

Bellavia et al. (1999)

Other variants which are also part of this study