Defects in the CUBN gene have been associated with both vitamin B12 deficiency and proteinuria, and the absence of cubilin results in the autosomal recessive condition Imerslund-Gräsbeck syndrome, characterized by B12 malabsorption and variable levels of proteinuria from impaired renal protein reabsorption [55]. The gene discussed is CUBN; the disease is Imerslund-Grasbeck syndrome.