Details for Gene MYO6

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

Found any issues with the data on this page? Report this entry.