LongevityMap Gene

Gene details

HGNC symbol
LARGE1 
Aliases
LARGE; MDC1D; MDDGA6; MDDGB6 
Common name
LARGE xylosyl- and glucuronyltransferase 1 
Description
This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
Cytogenetic Location
22q12.3
UCSC Genome Browser
View 22q12.3 on the UCSC genome browser
OMIM
603590
Ensembl
ENSG00000133424
UniProt/Swiss-Prot
LARG1_HUMAN
Entrez Gene
9215
UniGene
474667
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
large
Mus musculus
Large

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
rs5754682
Reference