Type XVIII collagen

The endostatin is from the c terminus end of the collagen XVIII, and is known to have an inhibitory effect on the growth of blood vessels.[4] It is speculated that the mutation of type XVIII collagen that occurs in Knobloch syndrome can be located in several variants of endostatin, a gene that interacts with type XVIII collagen to not only develop the ocular system, but to also maintain its visual functionality.This amino acid substitution is deleterious because it blocks the endostatin variant from interacting with laminin.[6] This discovery was significant in that it provided a new genetic locus for Knobloch syndrome, which helped to explain the development of the disease from genomes free of mutation in the COL18A1 gene.The mutations in type XVIII collagen result in a multitude of abnormalities in vision and eye structure, some of which include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and occipital encephalocele.
RefSeqUniProtChr. 21collagenendostatinN-terminusKnobloch Syndromelamininoccipital encephaloceledense deposit diseaseThe FASEB JournalMedical Subject HeadingsProteinscleroproteinsExtracellular matrixtype ICOL1A1COL1A2type IICOL2A1type IIItype VCOL5A1COL5A2COL5A3COL24A1COL26A1COL9A1COL9A2COL9A3COL12A1COL14A1COL16A1COL19A1COL20A1COL21A1COL22A1basement membranetype IVCOL4A1COL4A2COL4A3COL4A4COL4A5COL4A6multiplexinCOL15A1COL18A1COL13A1COL17A1COL23A1COL25A1type VICOL6A1COL6A2COL6A3COL6A5COL7A1COL8A1COL8A2COL10A1COL11A1COL11A2COL27A1COL28A1Prolyl hydroxylaseLysyl hydroxylaseCartilage associated proteinLeprecanADAMTS2Procollagen peptidaseLysyl oxidaseElastinTropoelastinVitronectinDecorinFAM20CMatrix gla proteinKeratinCytokeratinGelatinReticulinCartilage oligomeric matrix protein