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. Required for proper localization of bile salt export pump ABCB11 at the apical/canalicular plasma membrane of hepatocytes (PubMed:34816459).
Diarrhea 2, with microvillus atrophy, with or without cholestasis
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Cholestasis, progressive familial intrahepatic, 10
PFIC10
A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC10 is an autosomal recessive form with highly variable phenotype and severity, manifesting in the first months or years of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
KIAA1119, MYO5B, Unconventional myosin-Vb
Proteins
Neuroscience
213672Da
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ab190096