LongevityMap Gene

Gene details

HGNC symbol: GBA3
Aliases: CBG; GLUC; KLRP; CBGL1
Common name: glucosylceramidase beta 3 (gene/pseudogene)
Description: The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Cytogenetic Location: 4p15.2
UCSC Genome Browser: View 4p15.2 on the UCSC genome browser
OMIM: 606619
Ensembl: ENSG00000249948
UniProt/Swiss-Prot: A8K9N1_HUMAN
Entrez Gene: 57733
UniGene: 653107
1000 Genomes: 1000 Genomes

Homologs in model organisms

Danio rerio: gba3
Rattus norvegicus: Gba3

Studies (1)

Significant/Non-significant: 1/0

Longevity Association

Significant

Population

American (Caucasian)

Study Design

Genome-wide association study in 801 centenarians and 914 healthy controls

Conclusions

281 SNPs were found to discriminate between cases and controls

Indentifier

Reference