KEGG   VARIANT: 5625v1
Entry
5625v1                      Variant                                
Name
PRODH deficiency
Type
Loss of function
Gene
PRODH  proline dehydrogenase 1 [KO:K00318]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606810
Network
nt06033  Glycine, serine and arginine metabolism
Disease
H00190  Hyperprolinemia
Reference
PMID:12217952
  Authors
Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frebourg T
  Title
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
  Journal
Hum Mol Genet 11:2243-9 (2002)
DOI:10.1093/hmg/11.19.2243
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