KEGG   VARIANT: 5052v1
Entry
5052v1                      Variant                                
Name
PRDX1 mutation
Gene
PRDX1  peroxiredoxin 1 [KO:K13279]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176763
Network
nt06538  Cobalamin transport and metabolism
Disease
H02221 Methylmalonic aciduria and homocystinuria   
Reference
  Authors
Gueant JL, Chery C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouet D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS
  Title
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
  Journal
Nat Commun 9:67 (2018)
DOI:10.1038/s41467-017-02306-5
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