DISEASES

Disease-gene associations mined from literature

Literature associating MYO16 and Jacobsen Syndrome

MYO16 [ENSP00000401633]

Unconventional myosin-XVI; 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. May be involved in targeting of the catalytic subunit of protein phosphatase 1 during brain development. Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis (By similarity); In the N-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Synonyms:  MYO16,  MYO16p,  hMYO16,  F8W883,  Q9Y6X6 ...

Linkouts:  STRING  Pharos  UniProt