Английская Википедия:ADAMTS3
Шаблон:Short description Шаблон:Infobox gene A disintegrin and metalloproteinase with thrombospondin motifs 3 is an enzyme that in humans is encoded by the ADAMTS3 gene.[1][2] The protein encoded by this gene is the major procollagen II N-propeptidase.[2]
Structure
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 protein encoded by this gene is the major procollagen II N-propeptidase.[2]
Function
Because of the high similarity to ADAMTS2, the major substrate of ADAMTS3 had been erroneously assumed to be procollagen II.[3] However, ADAMTS3 appears largely irrelevant for collagen maturation but instead is required for the activation of the lymphangiogenic growth factor VEGF-C.[4] Hence, ADAMTS3 is essential for the development and growth of lymphatic vessels. The proteolytic processing of VEGF-C by ADAMTS3 is regulated by the CCBE1 protein.
ADAMTS3 has been shown to cleave reelin, a protein that regulates the proper lamination of the brain cortex and whose signal activity is found to be disrupted in a number of neuropsychiatric conditions.[5]
Clinical significance
A deficiency of this protein may be responsible for dermatosparaxis, a genetic defect of connective tissues.[2]
Some hereditary forms of lymphedema are caused by mutations in ADAMTS3.[6][7]
References
Further reading
External links
- The MEROPS online database for peptidases and their inhibitors: M12.220
- Шаблон:UCSC gene info
