Details for Gene COL23A1

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

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