ADAMTS18
Domain
The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
Involvement in disease
Microcornea, myopic chorioretinal atrophy, and telecanthus
MMCAT
A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears.
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 in fetal lung, liver, and kidney and in adult brain, prostate, submaxillary gland, and endothelium.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
ADAMTS21, ADAMTS18, A disintegrin and metalloproteinase with thrombospondin motifs 18, ADAM-TS 18, ADAM-TS18, ADAMTS-18