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

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
rs358256
Reference