ADAM metallopeptidase with thrombospondin type 1 motif 2
Synonyms
A disintegrin and metalloproteinase with thrombospondin motifs 2
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
Biotype
protein coding gene
Automated Description
Predicted to enable metalloendopeptidase activity. Predicted to be involved in extracellular matrix organization. Predicted to act upstream of or within several processes, including collagen fibril organization; protein processing; and spermatogenesis. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. Implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome dermatosparaxis type.
RGD Description
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]