| UniProt Protein Function: | ADAMTS18: Defects in ADAMTS18 are the cause of Knobloch syndrome type 2 (KNO2). A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:EC 3.4.24.-; Secreted; Protease; Motility/polarity/chemotaxis; Secreted, signal peptide Chromosomal Location of Human Ortholog: 16q23 Cellular Component: proteinaceous extracellular matrix Molecular Function:zinc ion binding; metalloendopeptidase activity Biological Process: eye development; proteolysis Disease: Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
| NCBI Summary: | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 has a high sequence similarity to the protein encoded by gene ADAMTS16, another family member. It is thought to function as a tumor suppressor. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q8TE60 |
| NCBI GenInfo Identifier: | 40806187 |
| NCBI Gene ID: | 170692 |
| NCBI Accession: | NP_955387.1 |
| UniProt Secondary Accession: | Q8TE60,Q6P4R5, Q6ZWJ9, |
| UniProt Related Accession: | Q8TE60 |
| Molecular Weight: | 135,167 Da |
| NCBI Full Name: | A disintegrin and metalloproteinase with thrombospondin motifs 18 preproprotein |
| NCBI Synonym Full Names: | ADAM metallopeptidase with thrombospondin type 1 motif, 18 |
| NCBI Official Symbol: | ADAMTS18 |
| NCBI Official Synonym Symbols: | KNO2; ADAMTS21 |
| NCBI Protein Information: | A disintegrin and metalloproteinase with thrombospondin motifs 18; disintegrin and metalloprotease-like protein; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18; a disintegrin-like and metalloprotease (reproly |
| UniProt Protein Name: | A disintegrin and metalloproteinase with thrombospondin motifs 18 |
| Protein Family: | A disintegrin and metalloproteinase with thrombospondin motifs |
| UniProt Gene Name: | ADAMTS18 |
| UniProt Entry Name: | ATS18_HUMAN |
