DISEASES

Disease-gene associations mined from literature

Literature associating MYO5A and Bardet-Biedl syndrome 2

MYO5A [ENSP00000382177]

Dilute myosin heavy chain, non-muscle; Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation; Myosins, class V

Synonyms:  MYO5A,  MYO5Ap,  hMYO5A,  E7ERV5,  F8WE88 ...

Linkouts:  STRING  Pharos  UniProt  OMIM