LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Italian
Study Design
Alleles were examined in healthy aged people (77 centenarians and 89 elderly subjects)
Conclusions
The frequencies of the alleles were similar in the studied cohorts
Identifier
CFB
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser

Gene details

HGNC symbol
CFB
Aliases
BF; FB; BFD; GBG; CFAB; CFBD; PBF2; AHUS4; FBI12; H2-Bf; ARMD14 
Common name
complement factor B 
Description
This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]
OMIM
138470
Ensembl
ENSG00000243649
UniProt/Swiss-Prot
CFAB_HUMAN
Entrez Gene
629
UniGene
69771
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cfb
Mus musculus
Gm20547
Rattus norvegicus
C2

References

Bellavia et al. (1999)

Other variants which are also part of this study