The lysosomal protein ABCD4 can transport vitamin B₁₂ across liposomal membranes in vitro.

ABSTRACT: Vitamin B₁₂ (cobalamin) is an essential micronutrient for human health, and mutation and dysregulation of cobalamin metabolism are associated with serious diseases, such as methylmalonic aciduria and homocystinuria. Mutations in ABCD4 or LMBRD1, which encode the ABC transporter ABCD4 and lysosomal membrane protein LMBD1, respectively, lead to errors in cobalamin metabolism, with the phenotype of a failure to release cobalamin from lysosomes. However, the mechanism of transport of cobalamin across the lysosomal membrane remains unknown. We previously demonstrated that LMBD1 is required for the translocation of ABCD4 from the endoplasmic reticulum to lysosomes. This suggests that ABCD4 performs an important function in lysosomal membrane cobalamin transport. In this study, we expr

SUBMITTER: Kitai K 

PROVIDER: S-EPMC8113721 | biostudies-literature | 2021 Jan-Jun

REPOSITORIES: biostudies-literature