GENE NAME | COL23A1 |
CHROMOSOME | 5 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000050767 |
UNIPROT ACCESSION NUMBER | Q86Y22 |
GO MOLECULAR FUNCTION | ['extracellular matrix structural constituent conferring tensile strength', 'heparin binding', 'protein binding', 'identical protein binding', 'extracellular matrix structural constituent'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa04974; R-HSA-1442490; R-HSA-1474228; R-HSA-1474244; R-HSA-1474290; R-HSA-1650814; R-HSA-216083; R-HSA-8948216 |
1 combination linked to COL23A1 | OLI1679 |
1 variant linked to COL23A1 | COL23A1:c.526G>T, p.Asp176Tyr |
1 disease linked to COL23A1 | Non-Syndromic genetic keratoconus |