Details for Gene MYH6

GENE NAME MYH6
CHROMOSOME 14
ENSEMBL ID ENSG00000197616
ENTREZ ID 4624
UNIPROT ACCESSION NUMBER P13533
GO MOLECULAR FUNCTION protein kinase binding; ATP binding; actin filament binding; calmodulin binding; microfilament motor activity; myosin phosphatase activity
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04261; hsa05414; hsa04919; R-HSA-390522; hsa04260; hsa05416; R-HSA-397014; hsa04022; hsa05410
2 combinations linked to MYH6 OLI268; OLI998
2 variants linked to MYH6 MYH6:; MYH6:c.4231G>A, p.Ala1411Thr
4 diseases linked to MYH6 Hypertrophic cardiomyopathy; Androgen insensitivity syndrome; 46,XY disorder of sex development; Arrhythmogenic right ventricular cardiomyopathy

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