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

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