LongevityMap Gene

Gene details

HGNC symbol
ABCC8 
Aliases
HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; TNDM2; SUR1delta2 
Common name
ATP binding cassette subfamily C member 8 
Description
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Cytogenetic Location
11p15.1
UCSC Genome Browser
View 11p15.1 on the UCSC genome browser
OMIM
600509
Ensembl
ENSG00000006071
UniProt/Swiss-Prot
ABCC8_HUMAN
Entrez Gene
6833
UniGene
54470
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
abcc8
Drosophila melanogaster
Sur
Mus musculus
Abcc8
Rattus norvegicus
Abcc8

Studies (2)

Significant/Non-significant: 0/2

Study 1

Longevity Association
Non-significant
Population
Italian
Study Design
Genome-wide association study on 410 long-living individuals (age range, 90–109 years) and 553 young control individuals (age range, 18–48 years) using 318,237 SNPs. An independent population with 116 long-lived individuals and 160 controls was used for replication purposes.
Conclusions
A total of 67 SNPs were identified with an indication of potentially being associated with longevity (p < 1 × 10−4), though 66 were not further validated
Indentifier
rs2073586
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Korean
    Study Design
    463 biomarkers in 176 disease associated genes were examined in 137 long lived individuals (>90 y, 59.1% female, 96.73 ± 3.97 y) and 213 young controls (12-14 y, 39.4% female, 12.93 ± 0.80)
    Conclusions
    Associations between several genes and longevity were detected at a P-value less than 0.01, though most were not significant after correcting for multiple hypothesis testing
    Indentifier
    rs757110
    Reference