Disease-gene associations mined from literature

Literature associating MYO1E and focal segmental glomerulosclerosis

MYO1E [ENSP00000288235]

Unconventional myosin 1E; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cytoskeleton by connecting them with the actin network via ARL14EP and ARL14.

Synonyms:  MYO1E,  MYO1Ep,  hMYO1E,  H0YLE5,  H0YLJ4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM