LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study using 1,471 genotyped participants from the Framingham Heart Study, of which 1,173 individuals had known lifespans, plus 517 individuals from the Offspring cohort for validating connections between longevity and genetic variants
- Conclusions
- A total of 27 SNPs, including in CDH4, SVEP1, CACNA1C, CARS, STK24, C7orf50, PARVG, NCAM2, PPP2R2C, NLRC5, BTBD9, RAC2, TGFA, KIAA0649, ABCC4, CLSTN2, FAM19A5 and RUNX3, were identified at the intersection of various statistical procedures
- Identifier
- rs4148544
- Cytogenetic Location
- 13q32.1
- UCSC Genome Browser
- View 13q32.1 on the UCSC genome browser
Gene details
- HGNC symbol
- ABCC4
- Aliases
- MRP4; MOATB; MOAT-B
- Common name
- ATP binding cassette subfamily C member 4
- 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 family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
- OMIM
- 605250
- Ensembl
- ENSG00000125257
- UniProt/Swiss-Prot
- A8K2Q2_HUMAN
- Entrez Gene
- 10257
- UniGene
- 508423
- HapMap
- View on HapMap