MYO5B

MYO5B

A gene on chromosome 18q21 that belongs to the myosin gene superfamily, and is thought to be involved in plasma membrane recycling; vesicular trafficking in association with the CART complex; transport of NPC1L1 to the plasma membrane in a complex with RAB11A and RAB11FIP2; CFTR trafficking to the plasma membrane and TF (transferrin) recycling in non-polarised cells with RAB11A; epithelial cell polarisation with RAB11A and RAB8A; and trancytosis with RAB25.
 
Molecular pathology
MYO5B mutations are linked to microvillus inclusion disease.
References in periodicals archive ?
(8) Rab (8), a small GTP-binding protein, and myosin Vb (MYO5B) were demonstrated to be involved in the intracellular transport of proteins to the apical level of the intestinal epithelial cells.
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.