KEGG   VARIANT: 26873v1
Entry
26873v1                      Variant                               
Name
OPLAH deficiency
Type
Loss of function
Gene
OPLAH  5-oxoprolinase, ATP-hydrolysing [KO:K01469]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 614243
Network
nt06026  Glutathione biosynthesis
Disease
H02313  5-Oxoprolinase deficiency
Reference
PMID:21651516
  Authors
Almaghlouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS
  Title
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
  Journal
Clin Genet 82:193-6 (2012)
DOI:10.1111/j.1399-0004.2011.01728.x
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