ADAMTS3 Chromosome 4
ADAM metallopeptidase with thrombospondin type 1 motif 3
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What This Gene Does
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]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
4q13.3
Ensembl
ENSG00000156140
Associated Conditions (3)
Inborn genetic diseases
ADAMTS3-related disorder
Hennekam lymphangiectasia-lymphedema syndrome 3
Key Variants
RS141944086
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142937879
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148581726
Conflicting classifications of pathogenicity
ADAMTS3-related disorder, Inborn genetic diseases, ADAMTS3-related disorder
Health Risk
RS1177851177
Pathogenic
Hennekam lymphangiectasia-lymphedema syndrome 3, Hennekam lymphangiectasia-lymphedema syndrome 3
Health Risk
RS61757480
Pathogenic
Hennekam lymphangiectasia-lymphedema syndrome 3, Hennekam lymphangiectasia-lymphedema syndrome 3
Health Risk
RS747975445
Pathogenic
Hennekam lymphangiectasia-lymphedema syndrome 3, Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 3
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141944086 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142937879 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148581726 | Health Risk | Conflicting classifications of pathogenicity | ADAMTS3-related disorder, Inborn genetic diseases, ADAMTS3-related disorder |
| RS1177851177 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 3, Hennekam lymphangiectasia-lymphedema syndrome 3 |
| RS61757480 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 3, Hennekam lymphangiectasia-lymphedema syndrome 3 |
| RS747975445 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 3, Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 3 |