SMPDB_ID

SMP0000208

PW_ID

PW000087

图片

主题

Disease

描述

Prolinemia Type II is caused by mutation in the pyrroline-5-carboxylate dehydrogenase gene (P5CDH) mitochondrial matrix NAD-dependent dehydrogenase. This dehydrogenase is a catalyst for converting pyrroline-5-carboxylate to glutamate in the proline degradation pathway. An enzyme defect causes accumulation of glycine, hydroxyproline and proline in the urine, ornithine in the serum and proline in plasma. Symptoms include mental retardation, acute and chronic renal failure, and seizures.

代谢物

SMPDB ID	代谢物id	代谢物的名字
SMP0000208	PW_C000019	Tetrahydrobiopterin
SMP0000208	PW_C001170	Flavin Mononucleotide
SMP0000208	PW_C001799	Heme
SMP0000208	PW_C000143	NADP
SMP0000208	PW_C001867	Nitric oxide
SMP0000208	PW_C002093	N(omega)-Hydroxyarginine
SMP0000208	PW_C001391	4-Hydroxy-2-oxoglutaric acid
SMP0000208	PW_C000148	Oxalacetic acid
SMP0000208	PW_C002808	L-4-Hydroxyglutamate semialdehyde
SMP0000208	PW_C000146	NADPH
SMP0000208	PW_C001535	4-Hydroxy-L-glutamic acid
SMP0000208	PW_C001512	1-Pyrroline-4-hydroxy-2-carboxylate
SMP0000208	PW_C002984	1-Pyrroline-2-carboxylic acid
SMP0000208	PW_C001878	D-Proline
SMP0000208	PW_C001104	Phosphate
SMP0000208	PW_C001027	Manganese
SMP0000208	PW_C000200	Urea
SMP0000208	PW_C001164	Phosphocreatine
SMP0000208	PW_C000046	Creatine
SMP0000208	PW_C000749	S-Adenosylhomocysteine
SMP0000208	PW_C000921	S-Adenosylmethionine
SMP0000208	PW_C000083	Guanidoacetic acid
SMP0000208	PW_C000078	Glycine
SMP0000208	PW_C001057	Pyrroline hydroxycarboxylic acid
SMP0000208	PW_C000174	Succinic acid
SMP0000208	PW_C002643	4-Hydroxyproline
SMP0000208	PW_C001065	Oxygen
SMP0000208	PW_C000964	FAD
SMP0000208	PW_C000106	L-Proline
SMP0000208	PW_C001003	1-Pyrroline-5-carboxylic acid
SMP0000208	PW_C040034	Hydrogen Ion
SMP0000208	PW_C001148	Pyridoxal 5'-phosphate
SMP0000208	PW_C001415	L-Glutamic gamma-semialdehyde
SMP0000208	PW_C001144	NADH
SMP0000208	PW_C000134	Oxoglutaric acid
SMP0000208	PW_C000721	NAD
SMP0000208	PW_C000095	L-Glutamic acid
SMP0000208	PW_C001441	Phosphoric acid
SMP0000208	PW_C001034	Adenosine diphosphate
SMP0000208	PW_C001420	Water
SMP0000208	PW_C001316	Carbon dioxide
SMP0000208	PW_C000035	Ammonia
SMP0000208	PW_C000396	L-Arginine
SMP0000208	PW_C000088	Fumaric acid
SMP0000208	PW_C000036	Argininosuccinic acid
SMP0000208	PW_C000170	Pyrophosphate
SMP0000208	PW_C000032	Adenosine monophosphate
SMP0000208	PW_C000123	L-Aspartic acid
SMP0000208	PW_C000414	Adenosine triphosphate
SMP0000208	PW_C000140	Ornithine
SMP0000208	PW_C000862	Carbamoyl phosphate
SMP0000208	PW_C000723	Citrulline
SMP0000208	PW_C001783	Hydrogen peroxide

蛋白质

SMPDB ID	蛋白质id	蛋白质的名字
SMP0000208	P07814	Bifunctional glutamate/proline--tRNA ligase
SMP0000208	P29475	Nitric oxide synthase, brain
SMP0000208	P17174	Aspartate aminotransferase, cytoplasmic
SMP0000208	P14920	D-amino-acid oxidase
SMP0000208	Q9Y619	Mitochondrial ornithine transporter 1
SMP0000208	P00480	Ornithine carbamoyltransferase, mitochondrial
SMP0000208	P05089	Arginase-1
SMP0000208	P12277	Creatine kinase B-type
SMP0000208	Q14353	Guanidinoacetate N-methyltransferase
SMP0000208	P50440	Glycine amidinotransferase, mitochondrial
SMP0000208	Q5T160	Probable arginine--tRNA ligase, mitochondrial
SMP0000208	Q7Z4N8	Prolyl 4-hydroxylase subunit alpha-3
SMP0000208	Q96C36	Pyrroline-5-carboxylate reductase 2
SMP0000208	O43272	Proline dehydrogenase 1, mitochondrial
SMP0000208	P30038	Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
SMP0000208	P04181	Ornithine aminotransferase, mitochondrial
SMP0000208	P00367	Glutamate dehydrogenase 1, mitochondrial
SMP0000208	P31327	Carbamoyl-phosphate synthase [ammonia], mitochondrial
SMP0000208	P04424	Argininosuccinate lyase
SMP0000208	P00966	Argininosuccinate synthase