LongevityMap Gene

Gene details

HGNC symbol
ADAMTSL1 
Aliases
C9orf94; PUNCTIN; ADAMTSR1; ADAMTSL-1 
Common name
ADAMTS like 1 
Description
This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
Cytogenetic Location
9p22.2-p22.1
UCSC Genome Browser
View 9p22.2-p22.1 on the UCSC genome browser
OMIM
609198
Ensembl
ENSG00000178031
UniProt/Swiss-Prot
ATL1_HUMAN
Entrez Gene
92949
UniGene
741483
1000 Genomes
1000 Genomes

Homologs in model organisms

Mus musculus
Adamtsl1
Rattus norvegicus
Adamtsl1

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
rs3780223
Reference