ADAMTS2

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 enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

Description

ADAM metallopeptidase with thrombospondin type 1 motif, 2

Protein family

Enzymes, Peptidases, Secreted proteins predicted by MDSP

Chromosome

5:q35.3 (178537852 - 178772431)

Ensembl ID

ENSG00000087116  (ver. 69.37)

Orthologs

Mouse Adamts2: ENSMUSG00000036545

Human splice variants
Mouse splice variants