Frank Rutsch and colleagues show that the cblF inborn error of vitamin B12 metabolism, which is characterized by accumulation of free vitamin B12 in lysosomes, is caused by mutations in the gene encoding the lysosomal membrane protein LMBD1. These findings suggest a critical function for LMBD1 in exporting cobalamin from lysosomes.
- Frank Rutsch
- Susann Gailus
- Peter Nürnberg
