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FLASH GENE

Symbol

PRODH

contributors: mct - updated : 06-06-2006

HGNC name	proline dehydrogenase (oxidase) 1
HGNC id	9453

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HPI hyperprolinemia type I
Location	22q11.21      Physical location : 18.900.287 - 18.924.066
Synonym name	proline oxidase 2
Synonym symbol(s)	PIG6, HSPOX2, PRODH1, PRODH2, POX, SCZD4, TP53I6
EC.number	1.5.99.8, 1.5.3.-

DNA

TYPE	functioning gene
STRUCTURE	23.00 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	cen - [D22S427 - DGCR6 - COMT - D22S264 ] - qter
Authors	Gogos (99)
Text	[PRODH ]

regionally located

in the region associated with the Di George and CATCH syndromes

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive mouth tongue     highly Endocrine pancreas       lowly Nervous brain       predominantly Respiratory lung       moderately Urinary kidney       moderately Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to Drosophila sluggish-A

Homologene

FAMILY

proline oxidase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	oxidoreductase involved in the transfer of redox potential across the mitochondrial membrane
	catalyzes the rate-limiting oxidation of proline to pyrroline- 5-carboxylate (P5C)
	in the presence of proline, high PRODH activity is sufficient to induce mitochondria-mediated apoptosis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

proline catabolism

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HPI

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in schizophrenic patient (potential role of hyperprolinemia)

Susceptibility

to schizophrenia

Variant & Polymorphism other	L441P and R453C,and V427M with reduction of POX activity and increasing the prolinuria associated to schizophrenia

Candidate gene	for psychosis in the 22q11.2 deletion syndrome
Marker
Therapy target

ANIMAL & CELL MODELS