MYO5B

The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease.

Full Name

MYOSIN VB

Function

May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis.

Biological Process

Actin filament organization Source: GO_Central
Endosomal transport Source: UniProtKB
Protein transport Source: UniProtKB-KW
Renal water homeostasis Source: Reactome
Vesicle-mediated transport Source: UniProtKB
Vesicle transport along actin filament Source: GO_Central

Cellular Location

Cytoplasm

Involvement in disease

Diarrhea 2, with microvillus atrophy (DIAR2):
A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life.