DISEASES

Disease-gene associations mined from literature

Literature associating MYO3A and autosomal dominant nonsyndromic deafness 1

MYO3A [ENSP00000265944]

Myosin IIIA; Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (By similarity).

Synonyms:  MYO3A,  MYO3Ap,  hMYO3A,  B1ANA3,  F5H0U9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM