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 | OLI998; OLI268 |
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 |