KEGG   VARIANT: 55788v1
Entry
55788v1                      Variant                               
Name
LMBRD1 deficiency
Type
Loss of function
Gene
LMBRD1  LMBR1 domain containing 1 [KO:K14617]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612625
Network
nt06538  Cobalamin transport and metabolism
Disease
H02221  Methylmalonic aciduria and homocystinuria
Reference
PMID:19136951
  Authors
Rutsch F, Gailus S, Miousse IR, Suormala T, Sagne C, Toliat MR, Nurnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B, Rosenblatt DS, Fowler B, Nurnberg P
  Title
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
  Journal
Nat Genet 41:234-9 (2009)
DOI:10.1038/ng.294
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