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Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.

Authors
  • Gailus, Susann
  • Höhne, Wolfgang
  • Gasnier, Bruno
  • Nürnberg, Peter
  • Fowler, Brian
  • Rutsch, Frank
Type
Published Article
Journal
Journal of Molecular Medicine
Publisher
Springer-Verlag
Publication Date
May 01, 2010
Volume
88
Issue
5
Pages
459–466
Identifiers
DOI: 10.1007/s00109-010-0601-x
PMID: 20174775
Source
Medline
License
Unknown

Abstract

Vitamin B(12) (cobalamin) is essential in animals and humans for metabolism of methylmalonic acid, for the remethylation of homocysteine to methionine and, consequently, for all S-adenosylmethionine-dependent methylation reactions, including DNA synthesis. In man, cobalamin deficiency leads to anemia and neurologic and cognitive impairment. In the cblF inborn error of vitamin B(12) metabolism, free vitamin accumulates in lysosomes and cannot be converted to cofactors for mitochondrial methylmalonyl-CoA mutase and cytosolic methionine synthase. Recent work has shown that this defect is caused by mutations in the lysosomal membrane protein LMBD1, which shows significant homology to lipocalin membrane receptors, thereby indicating that LMBD1 is a lysosomal membrane exporter for cobalamin.

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