LongevityMap Gene

Gene details

HGNC symbol
FANCA 
Aliases
FA; FA1; FAA; FAH; FA-H; FACA; FANCH 
Common name
Fanconi anemia complementation group A 
Description
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser
OMIM
607139
Ensembl
ENSG00000187741
UniProt/Swiss-Prot
FANCA_HUMAN
Entrez Gene
2175
UniGene
744083
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
uncharacterized_E7FC
Mus musculus
Fanca
Rattus norvegicus
Fanca

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Danish
Study Design
592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
Conclusions
The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
Indentifier
rs7187436
Reference