GENE NAME | MYOC |
CHROMOSOME | 1 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000034971 |
UNIPROT ACCESSION NUMBER | Q99972 |
GO MOLECULAR FUNCTION | ['frizzled binding', 'fibronectin binding', 'myosin light chain binding', 'protein binding', 'receptor tyrosine kinase binding', 'metal ion binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
3 combinations linked to MYOC | OLI1796; OLI169; OLI460 |
3 variants linked to MYOC | MYOC:c.1218G>T, p.Gly399Val; MYOC:c.144G>T, p.Gln48His; MYOC:c.1109C>T, p.Pro370Leu |
2 diseases linked to MYOC | Congenital glaucoma; Juvenile glaucoma |