Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF

Stable Identifier
R-HSA-3359458
Type
Pathway
Species
Homo sapiens
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Defects in LMBRD1 cause methylmalonic aciduria and homocystinuria type cblF (MMAHCF; MIM:277380), characterised biochemically by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MetCbl) (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
Participants
Participant Of
Disease
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblF 0050717 Cobalamin F deficiency
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