Disease-gene associations mined from literature

Literature associating MYO1C and Miller-Dieker lissencephaly syndrome

MYO1C [ENSP00000352834]

Unconventional myosin-Ic; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Involved in glucose transporter recycling in response to insulin by regulating movement of intracellular GLUT4-containing vesicles to the plasma membrane. Component of the hair cell's (the sensory cells of the inner ear) adaptation-motor complex. Acts as a mediator of adaptation of mechanoelectrical transduction in stereocilia of vestibular hair cells. Binds phosphoinositides and links the actin cytoskeleton to cellular membranes; Myosins, class I

Synonyms:  MYO1C,  MYO1Cp,  hMYO1C,  F5H6E2,  I3L168 ...

Linkouts:  STRING  Pharos  UniProt  OMIM