Details for Gene MYO5A

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

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