Gene: ADAMTS3

Alternate names for this Gene: ADAMTS-4|HKLLS3

Gene Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage.

Gene is located in Chromosome: 4

Location in Chromosome : 4q13.3

Description of this Gene: ADAM metallopeptidase with thrombospondin type 1 motif 3

Type of Gene: protein-coding

rs114506919 in ADAMTS3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1383934 in ADAMTS3 gene and Dental caries PMID 23259602 2012 Genome-wide association scan of dental caries in the permanent dentition.

rs115136538 in ADAMTS3 gene and Lipids measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs151193598 in ADAMTS3 gene and Low density lipoprotein cholesterol measurement PMID 29084231 2017 Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

rs16848079 in ADAMTS3 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs151193598 in ADAMTS3 gene and Serum total cholesterol measurement PMID 29084231 2017 Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

rs78862524 in ADAMTS3 gene and Vitamin D measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs78862524 in ADAMTS3 gene and Vitamin D3 measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.