DISEASES

Disease-gene associations mined from literature

Literature associating MYO6 and autosomal dominant nonsyndromic deafness

MYO6 [ENSP00000358994]

Unconventional myosin-VI; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells. May act as a regulator of F-actin dynamics. May play a role in transporting DAB2 from the plasma membrane to specific cellular targets. Required for structural integrity of inner ear hair cells (By similarity); Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Synonyms:  MYO6,  MYO6p,  hMYO6,  Q14784,  Q5JVM0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM