ADAMTS2
Domain
The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
Function
Cleaves the propeptides of type I and II collagen prior to fibril assembly (By similarity). Does not act on type III collagen (By similarity). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form with reduced collagen-binding activity (PubMed:31152061).
Involvement in disease
Ehlers-Danlos syndrome, dermatosparaxis type
EDSDERMS
A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The precursor is cleaved by a furin endopeptidase.
Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Can also be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
Tissue Specificity
Expressed at high level in skin, bone, tendon and aorta and at low levels in thymus and brain.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
PCINP, PCPNI, ADAMTS2, A disintegrin and metalloproteinase with thrombospondin motifs 2, ADAM-TS 2, ADAM-TS2, ADAMTS-2, Procollagen I N-proteinase, Procollagen I/II amino propeptide-processing enzyme, Procollagen N-endopeptidase, PC I-NP, pNPI