Disease-gene associations mined from literature

Literature associating MYO5B and proprotein convertase 1/3 deficiency

MYO5B [ENSP00000285039]

Unconventional myosin-Vb; 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; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Synonyms:  MYO5B,  MYO5Bp,  hMYO5B,  A0A024R269,  ACAA2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM