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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed June 2007

What is the official name of the PRODH gene?

The official name of this gene is “proline dehydrogenase (oxidase) 1.”

PRODH is the gene's official symbol. The PRODH gene is also known by other names, listed below.

What is the normal function of the PRODH gene?

The PRODH gene provides instructions for producing the enzyme proline oxidase, 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.

How are changes in the PRODH gene related to health conditions?

hyperprolinemia - caused by mutations in the PRODH gene

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.

other disorders - associated with the PRODH gene

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.

Where is the PRODH gene located?

Cytogenetic Location: 22q11.21

Molecular Location on chromosome 22: base pairs 18,912,695 to 18,936,553

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The PRODH gene is located on the long (q) arm of chromosome 22 at position 11.21.

The PRODH gene is located on the long (q) arm of chromosome 22 at position 11.21.

More precisely, the PRODH gene is located from base pair 18,912,695 to base pair 18,936,553 on chromosome 22.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about PRODH?

You and your healthcare professional may find the following resources about PRODH helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PRODH gene or gene products?

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

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding PRODH?

acids ; amino acid ; breakdown ; carboxylate ; cell ; degradation ; dehydrogenase ; disability ; enzyme ; gene ; kidney ; mitochondria ; neurological ; neurotransmitters ; oxidase ; proline ; protein ; schizophrenia ; substitution ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • NCBI Gene (
  • 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. (
  • 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. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: June 2007
Published: February 8, 2016