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PRODH gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PRODH gene

The PRODH gene provides instructions for producing the enzyme proline dehydrogenase, which is essential for breaking down the amino acid proline and maintaining cellular energy.

Normal Function

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

Proline dehydrogenase plays a role in the process of breaking down the protein building block (amino acid) proline. Specifically, the enzyme starts the reaction that converts proline to pyrroline-5-carboxylate. A subsequent step converts this intermediate product to the amino acid glutamate.

The conversion of proline to glutamate (and the conversion of glutamate to proline, which is controlled by different enzymes) is important for maintaining a supply of amino acids needed for protein production, and for energy transfer within the cell.

Health Conditions Related to Genetic Changes

Hyperprolinemia

More than 20 variants (also known as mutations) in the PRODH gene have been found to cause hyperprolinemia type I, which is an excess of proline in the blood. Type I is generally characterized by a lack of symptoms, although some severely affected individuals have neurological problems such as seizures or intellectual disability. PRODH gene variants change single amino acids in the enzyme and reduce the activity of the proline dehydrogenase enzyme, causing a decrease in its ability to break down proline. A decrease in proline breakdown results in a buildup of proline in the body, leading to hyperprolinemia.

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 decreased breakdown of proline and a buildup of proline in the body. Researchers believe that hyperprolinemia may affect the action of certain chemicals that transmit signals between nerve cells (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
  • PROD_HUMAN
  • PRODH1
  • PRODH2
  • proline dehydrogenase (oxidase) 1
  • proline dehydrogenase (proline oxidase )
  • proline oxidase 2
  • Proline oxidase, mitochondrial
  • SCZD4
  • TP53I6
  • tumor protein p53 inducible protein 6

Frequently Asked Questions

Diagnosis is typically confirmed through blood tests measuring proline concentrations, often followed by genetic testing to identify specific variants in the PRODH gene. Elevated proline levels in the blood indicate that the body is not breaking down the amino acid efficiently due to reduced activity of the proline dehydrogenase enzyme. While many individuals with high proline levels are asymptomatic, clinicians monitor for neurological signs such as seizures or developmental delays, which may suggest a more severe impact on brain function.
Most individuals with hyperprolinemia type I do not require specific dietary changes or medication because the condition is generally asymptomatic. However, if neurological symptoms such as seizures or intellectual disability are present, treatment focuses on managing those specific symptoms rather than lowering proline levels directly. There is no standard protocol for proline restriction in type I, unlike other metabolic disorders, so management is largely supportive and tailored to the individual's clinical presentation.
Research has identified an association between certain PRODH gene variations and an increased risk of psychiatric disorders, including schizophrenia, although the exact mechanism is not fully understood. These genetic variants may affect how the brain processes proline and glutamate, which are important for neurotransmission. However, having a PRODH variant does not guarantee the development of schizophrenia, as the condition is multifactorial, involving a combination of genetic susceptibility and environmental triggers.
Hyperprolinemia type I is inherited in an autosomal recessive pattern, meaning an individual must inherit two mutated copies of the PRODH gene, one from each parent, to develop the condition. Parents who carry one mutated copy are typically carriers and do not show symptoms. Genetic counseling is recommended for families with a history of the condition to understand the 25 percent chance of having an affected child in each pregnancy.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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