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Literature summary for 1.5.99.B2 extracted from

  • Di Rosa, G.; Pustorino, G.; Spano, M.; Campion, D.; Calabro, M.; Aguennouz, M.; Caccamo, D.; Legallic, S.; Sgro, D.L.; Bonsignore, M.; Tortorella, G.
    Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation (2008), Psychiatr. Genet., 18, 40-42.
    View publication on PubMed
Search for more literature for 1.5.99.B2

Application

Application Comment Organism
medicine proline dehydrogenase is involved in type I hyperprolinemia Homo sapiens

Protein Variants

Protein Variants Comment Organism
A167V moderate reduction of POX activity Homo sapiens
A455S slight reduction of POX activity Homo sapiens
A472T slight reduction of POX activity Homo sapiens
D426N moderate reduction of POX activity Homo sapiens
L289M slight reduction of POX activity Homo sapiens
L441P severe reduction of POX activity Homo sapiens
P460L severe reduction of POX activity Homo sapiens
Q19P moderate reduction of POX activity Homo sapiens
Q521E severe reduction of POX activity Homo sapiens
R185Q slight reduction of POX activity Homo sapiens
R185W moderate reduction of POX activity Homo sapiens
R431H moderate reduction of POX activity Homo sapiens
R453C severe reduction of POX activity Homo sapiens
T466M severe reduction of POX activity Homo sapiens
V427M moderate reduction of POX activity Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
lymphocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-proline + acceptor + H2O
-
 Homo sapiens (S)-1-pyrroline-5-carboxylate + reduced acceptor
-
 ?

Synonyms

Synonyms Comment Organism
POX
-
 Homo sapiens
PRODH
-
 Homo sapiens
proline dehydrogenase
-
 Homo sapiens