URL of this page: https://medlineplus.gov/genetics/gene/prodh/

PRODH gene

proline dehydrogenase 1
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Normal Function

The PRODH gene provides instructions for producing the enzyme proline oxidase (also known as proline dehydrogenase), which is found primarily in the brain, liver, and kidney. Within cells of these organs, this enzyme functions in energy-producing structures called mitochondria.

Proline oxidase begins the process of breaking down the protein building block (amino acid) proline by starting the reaction that converts it to pyrroline-5-carboxylate. A subsequent step converts this intermediate product to the amino acid glutamate. The conversion between proline and glutamate is important in maintaining a supply of the amino acids needed for protein production, and for energy transfer within the cell.

Health Conditions Related to Genetic Changes


At least 15 mutations in the PRODH gene have been found to reduce the activity of the proline oxidase enzyme. These mutations substitute one amino acid for another amino acid in the enzyme, causing it to perform its function in proline breakdown (degradation) less efficiently. A reduction in proline oxidase function results in a buildup of proline in the body, and in severe cases of hyperprolinemia can cause seizures, intellectual disability, or other neurological or psychiatric problems.

More About This Health Condition

Other disorders

Several studies have shown an association between variations in the PRODH gene and psychiatric disorders such as schizophrenia, while others have shown no significant association. Most of the variations in the PRODH gene result in the substitution of one amino acid for another in the proline dehydrogenase enzyme. The amino acid substitution reduces the enzyme's activity, resulting in less efficient breakdown of proline. Researchers believe that elevated proline levels may affect the action of certain chemicals that transmit signals between neurons in the brain (neurotransmitters), resulting in an increased risk of psychiatric disorders.

Other Names for This Gene

  • FLJ33744
  • HSPOX2
  • MGC148078
  • MGC148079
  • p53 induced protein
  • PIG6
  • PRODH1
  • PRODH2
  • proline dehydrogenase (oxidase) 1
  • proline dehydrogenase (proline oxidase )
  • proline oxidase 2
  • Proline oxidase, mitochondrial
  • SCZD4
  • TP53I6
  • tumor protein p53 inducible protein 6

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources


  • Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D. Functional consequences of PRODH missense mutations. Am J Hum Genet. 2005 Mar;76(3):409-20. Epub 2005 Jan 20. Citation on PubMed or Free article on PubMed Central
  • Campbell HD, Webb GC, Young IG. A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia. Hum Genet. 1997 Nov;101(1):69-74. Citation on PubMed
  • Goodman BK, Rutberg J, Lin WW, Pulver AE, Thomas GH. Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome. J Inherit Metab Dis. 2000 Dec;23(8):847-8. Citation on PubMed
  • Hoogendoorn B, Coleman SL, Guy CA, Smith SK, O'Donovan MC, Buckland PR. Functional analysis of polymorphisms in the promoter regions of genes on 22q11. Hum Mutat. 2004 Jul;24(1):35-42. Citation on PubMed
  • Jacquet H, Berthelot J, Bonnemains C, Simard G, Saugier-Veber P, Raux G, Campion D, Bonneau D, Frebourg T. The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene. J Med Genet. 2003 Jan;40(1):e7. Citation on PubMed or Free article on PubMed Central
  • Jacquet H, Demily C, Houy E, Hecketsweiler B, Bou J, Raux G, Lerond J, Allio G, Haouzir S, Tillaux A, Bellegou C, Fouldrin G, Delamillieure P, Ménard JF, Dollfus S, D'Amato T, Petit M, Thibaut F, Frébourg T, Campion D. Hyperprolinemia is a risk factor for schizoaffective disorder. Mol Psychiatry. 2005 May;10(5):479-85. Citation on PubMed
  • Jacquet H, Rapoport JL, Hecketsweiler B, Bobb A, Thibaut F, Frébourg T, Campion D. Hyperprolinemia is not associated with childhood onset schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):192. Citation on PubMed
  • 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, Frébourg T. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet. 2002 Sep 15;11(19):2243-9. Citation on PubMed
  • Li D, He L. Association study of the G-protein signaling 4 (RGS4) and proline dehydrogenase (PRODH) genes with schizophrenia: a meta-analysis. Eur J Hum Genet. 2006 Oct;14(10):1130-5. Epub 2006 Jun 21. Citation on PubMed
  • Li T, Ma X, Sham PC, Sun X, Hu X, Wang Q, Meng H, Deng W, Liu X, Murray RM, Collier DA. Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population. Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129B(1):13-5. Citation on PubMed
  • Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Brévière GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gérard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet. 2007 Jan 1;16(1):83-91. Epub 2006 Nov 29. Citation on PubMed
  • Williams HJ, Williams N, Spurlock G, Norton N, Zammit S, Kirov G, Owen MJ, O'Donovan MC. Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2003 Jul 1;120B(1):42-6. Citation on PubMed
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