Literature summary 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.

Application

EC Number	Application	Comment	Organism
1.5.99.B2	medicine	proline dehydrogenase is involved in type I hyperprolinemia	Homo sapiens

Protein Variants

EC Number	Protein Variants	Comment	Organism
1.5.99.B2	A167V	moderate reduction of POX activity	Homo sapiens
1.5.99.B2	A455S	slight reduction of POX activity	Homo sapiens
1.5.99.B2	A472T	slight reduction of POX activity	Homo sapiens
1.5.99.B2	D426N	moderate reduction of POX activity	Homo sapiens
1.5.99.B2	L289M	slight reduction of POX activity	Homo sapiens
1.5.99.B2	L441P	severe reduction of POX activity	Homo sapiens
1.5.99.B2	P460L	severe reduction of POX activity	Homo sapiens
1.5.99.B2	Q19P	moderate reduction of POX activity	Homo sapiens
1.5.99.B2	Q521E	severe reduction of POX activity	Homo sapiens
1.5.99.B2	R185Q	slight reduction of POX activity	Homo sapiens
1.5.99.B2	R185W	moderate reduction of POX activity	Homo sapiens
1.5.99.B2	R431H	moderate reduction of POX activity	Homo sapiens
1.5.99.B2	R453C	severe reduction of POX activity	Homo sapiens
1.5.99.B2	T466M	severe reduction of POX activity	Homo sapiens
1.5.99.B2	V427M	moderate reduction of POX activity	Homo sapiens

Organism

EC Number	Organism	UniProt	Comment	Textmining
1.5.99.B2	Homo sapiens	-	-	-

Source Tissue

EC Number	Source Tissue	Comment	Organism	Textmining
1.5.99.B2	lymphocyte	-	Homo sapiens	-

Substrates and Products (Substrate)

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
1.5.99.B2	L-proline + acceptor + H2O	-	Homo sapiens	(S)-1-pyrroline-5-carboxylate + reduced acceptor	-	?

Synonyms

EC Number	Synonyms	Comment	Organism
1.5.99.B2	POX	-	Homo sapiens
1.5.99.B2	PRODH	-	Homo sapiens
1.5.99.B2	proline dehydrogenase	-	Homo sapiens

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Release 2023.1 (January 2023)