LongevityMap Gene

Gene details

HGNC symbol
AFG1L 
Aliases
AFG1; LACE1; c222389 
Common name
AFG1 like ATPase 
Description
This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
OMIM
Ensembl
ENSG00000135537
UniProt/Swiss-Prot
LACE1_HUMAN
Entrez Gene
246269
UniGene
259666
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
C30F12.2
Danio rerio
lace1a
Drosophila melanogaster
CG8520
Mus musculus
Lace1
Rattus norvegicus
Lace1
Saccharomyces cerevisiae
AFG1
Schizosaccharomyces pombe
SPBC115.02c

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
German
Study Design
16 known FOXO3A SNPs were examined in 1,762 German centenarians/nonagenarians and younger controls
Conclusions
Polymorphisms in FOXO3A were associated with longevity. The FOXO3A association was considerably stronger in centenarians than in nonagenarians, highlighting the importance of centenarians for genetic longevity research. Replication in 535 French centenarians (mean age: 103.8 years) and 553 younger controls (aged 18–70 years) generated a trend that supported the results, although it was not statistically significant.
Indentifier
rs2274776
Reference