LongevityMap Gene

Gene details

HGNC symbol
APOA1 
Aliases
apo(a) 
Common name
apolipoprotein A1 
Description
This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser
OMIM
107680
Ensembl
ENSG00000118137
UniProt/Swiss-Prot
A0A024R3E3_HUMAN
Entrez Gene
335
UniGene
93194
1000 Genomes
1000 Genomes

Homologs in model organisms

Mus musculus
Apoa1
Rattus norvegicus
Apoa1

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
Italian (Southern)
Study Design
APOA1-MspI-RFLP (-75 nt from the transcription starting site) polymorphism was examined in a healthy population with 304 subjects aged 18-45 years, 267 subjects aged 46-80 years and 229 subjects aged 81-109 years (including 184 subjects, 43 males and 141 females, older than 100 years)
Conclusions
The APOA1 allele P, which increases serum LDL-C at middle-age and is over-represented in cardiovascular diseases, tends to have higher frequency in the centenarians males
Indentifier
APOA1-MspI-RFLP
Reference