KEGG   VARIANT: 166785v1
Entry
166785v1                      Variant                              
Name
MMAA deficiency
Type
Loss of function
Gene
MMAA  metabolism of cobalamin associated A [KO:K07588]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation
OmimVar: 607481
Network
nt06538  Cobalamin transport and metabolism
Disease
H00174  Methylmalonic aciduria
Reference
PMID:12438653
  Authors
Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA
  Title
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
  Journal
Proc Natl Acad Sci U S A 99:15554-9 (2002)
DOI:10.1073/pnas.242614799
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