ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3
Gene ID: 9508, updated on 5-Mar-2024Gene type: protein coding
Also known as: HKLLS3; ADAMTS-4
- See all available tests in GTR for this gene
- Go to complete Gene record for ADAMTS3
- Go to Variation Viewer for ADAMTS3 variants
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. [provided by RefSeq, Feb 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. GeneReviews: Not available | |
| Genome-wide association scan of dental caries in the permanent dentition. GeneReviews: Not available | |
| Genome-wide association study identifies multiple loci influencing human serum metabolite levels. GeneReviews: Not available | |
| Hennekam lymphangiectasia-lymphedema syndrome 3 | See labs |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available | |
| Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available |
Genomic context
- Location:
- 4q13.3
- Sequence:
- Chromosome: 4; NC_000004.12 (72280969..72569221, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ADAMTS3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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