Reactome | LMBRD1 transports lysosomal Cbl to cytosol

LMBRD1 transports lysosomal Cbl to cytosol

Stable Identifier

R-HSA-3000238

Type

Reaction [transition]

Species

Homo sapiens

Compartment

cytosol, lysosomal lumen, lysosomal membrane

Locations in the PathwayBrowser

Expand all

General

SBML | | PDF

SVG | | PPTX | SBGN

LMBRD1 transports lysosomal Cbl to cytosol

Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

The probable lysosomal cobalamin transporter (LMBD1) is the most likely candidate to transport cobalamin (Cbl) from inside the lysosome to the cytosol (Rutsch et al. 2009). From here, Cbl can either be used to synthesise the essential cofactors for methionine synthase in the cytosol or methylmalonyl-CoA mutase in the mitochondria or, it can transported out of the cell to tissues that require Cbl. Defects in LMBRD1 (the gene that produces LMBD1) cause methylmalonic aciduria and homocystinuria type cblF (MMAHCF; MIM:277380), characterised biochemically by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) (Rutsch et al. 2009, Gailus et al. 2010).

Literature References

PubMed ID	Title	Journal	Year
20174775	Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease Gailus, S, Höhne, W, Gasnier, B, Nürnberg, P, Fowler, B, Rutsch, F	J. Mol. Med.	2010
19136951	Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism Rutsch, F, Gailus, S, Miousse, IR, Suormala, T, Sagné, C, Toliat, MR, Nürnberg, G, Wittkampf, T, Buers, I, Sharifi, A, Stucki, M, Becker, C, Baumgartner, M, Robenek, H, Marquardt, T, Höhne, W, Gasnier, B, Rosenblatt, DS, Fowler, B, Nürnberg, P	Nat. Genet.	2009