Gene Symbol | ADAMTS2 |
Entrez Gene ID | 9509 |
Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 2 |
Synonyms | ADAM-TS2,ADAMTS-2,ADAMTS-3,EDSDERMS,NPI,PC I-NP,PCI-NP,PCINP,PCPNI,PNPI |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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 procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. |
Disorder MIM: | |
Disorder Html: | Ehlers-Danlos syndrome, type VIIC, 225410 (3) |