Gene: ADAMTSL1

Alternate names for this Gene: ADAMTSL-1|ADAMTSR1|C9orf94|PUNCTIN

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9p22.2-p22.1

Description of this Gene: ADAMTS like 1

Type of Gene: protein-coding

rs12006002 in ADAMTSL1 gene and Alcoholic Intoxication, Chronic PMID 23089632 2013 A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.

rs10963680 in ADAMTSL1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs146551666 in ADAMTSL1 gene and Bone Density PMID 30690781 2019 Joint Association Analysis Identified 18 New Loci for Bone Mineral Density.

rs146250839 in ADAMTSL1 gene and Diastolic blood pressure PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

rs7041139 in ADAMTSL1 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs7034696 in ADAMTSL1 gene and Glaucoma PMID 21532571 2011 Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

rs2210327 in ADAMTSL1 gene and Heart failure PMID 20445134 2010 Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.

rs10963676 in ADAMTSL1 gene and Parkinson Disease PMID 17052657 2006 Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.

rs11789653 in ADAMTSL1 gene and Polybrominated biphenyl measurement PMID 28235828 2017 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants.

rs17185553 in ADAMTSL1 gene and Small cell carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs7862648 in ADAMTSL1 gene and Suicide attempt PMID 30116032 2018 Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study.

rs7041139 in ADAMTSL1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.