GENE NAME | MYO6 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000196586 |
ENTREZ ID | 4646 |
UNIPROT ACCESSION NUMBER | Q9UM54 |
GO MOLECULAR FUNCTION | actin binding; ATP binding; actin filament binding; nucleotide binding; cytoskeletal motor activity; calmodulin binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-190828; R-HSA-399721; R-HSA-190873; R-HSA-112314; hsa05130; R-HSA-399719; R-HSA-5653656; hsa05132; R-HSA-112315; R-HSA-112316; R-HSA-157858; R-HSA-199991 |
1 combination linked to MYO6 | OLI831 |
1 variant linked to MYO6 | MYO6:c.3526A>C, p.Ile1176Leu |
2 diseases linked to MYO6 | Severe congenital neutropenia; Non-syndromic genetic deafness |