GENE NAME | MYO5A |
CHROMOSOME | 15 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000197535 |
UNIPROT ACCESSION NUMBER | Q9Y4I1 |
GO MOLECULAR FUNCTION | ['small GTPase binding', 'calmodulin binding', 'protein binding', 'RNA binding', 'microfilament motor activity', 'actin filament binding', 'ATP binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa05130; R-HSA-1445148; R-HSA-1643685; R-HSA-168249; R-HSA-168256; R-HSA-199991; R-HSA-2029480; R-HSA-2029482; R-HSA-264876; R-HSA-2980736; R-HSA-392499; R-HSA-5653656; R-HSA-5663205; R-HSA-9658195; R-HSA-9664407; R-HSA-9664417; R-HSA-9664422 |
2 combinations linked to MYO5A | OLI1802; OLI1803 |
1 variant linked to MYO5A | MYO5A:c.2401C>T, p.Arg801Trp |
1 disease linked to MYO5A | Hypoplastic left heart syndrome |