Details for Gene MYOC

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

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