| Entrez gene ID | | 80781 |
| Official gene symbol | | COL18A1 |
| Full name | | collagen, type XVIII, alpha 1 |
| Aliases | | ,FLJ27325,FLJ34914,KNO,KNO1,MGC74745, |
| Gene summary | | This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
| Location | | Chromosome: 21 Locus: 21q22.3 |
| Gene position | | 46825097 - 46933634 Map Viewer |
| Gene orientation | | plus |
| Gene size | | 108538 bp |
| Gene sequence |
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| OMIM ID | | 120328 |
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