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PRDX1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PRDX1 gene

The PRDX1 gene provides instructions for making the peroxiredoxin-1 protein, which protects cells from damage caused by reactive oxygen species.

Normal Function

The PRDX1 gene provides instructions for making the peroxiredoxin-1 (PRDX1) protein. This protein is part of a family of peroxiredoxin proteins that are primarily involved in chemical reactions that protect cells from damage caused by unstable oxygen-containing molecules known as reactive oxygen species (ROS).

The PRDX1 protein breaks down hydrogen peroxide, which is produced through chemical reactions within cells. At low levels, hydrogen peroxide is involved in several chemical signaling pathways that control cell functions like growth, maturation, and survival. By regulating the amount of hydrogen peroxide in cells, the PRDX1 protein appears to help control these chemical signaling pathways, playing a role in important cellular functions.

At high levels, hydrogen peroxide is toxic to cells. If it is not broken down, it can damage DNA, proteins, and cell membranes. The PRDX1 protein helps protect cells from this damage.

The PRDX1 gene is located close to the MMACHC gene on chromosome 1. While these two genes have unrelated roles, the protein produced from the MMACHC gene is involved in processing vitamin B12 (also known as cobalamin).

Health Conditions Related to Genetic Changes

Methylmalonic acidemia with homocystinuria

Variants (also known as mutations) in the PRDX1 gene are involved in methylmalonic acidemia with homocystinuria, epi-cblC type (epi-cblC), a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities.

Variants in the PRDX1 gene cause epi-cblC by leading to a genetic change called promoter hypermethylation (also called an epimutation). The promoter is a region of DNA near a gene that controls gene activity. Hypermethylation occurs when too many methyl groups are attached to the promoter region. PRDX1 gene variants involved in epi-cblC alter the DNA in such a way that the promoter of the nearby MMACHC gene becomes hypermethylated. The extra methyl groups reduce the expression of the MMACHC gene, resulting in less MMACHC protein production.

People with epi-cblC typically have a PRDX1 gene variant on one copy of the chromosome and an MMACHC gene variant on the other. As a result, cells make little to no functional MMACHC protein, which prevents the normal processing of vitamin B12. A shortage of the molecules derived from vitamin B12 leads to the signs and symptoms of the disorder.

Other Names for This Gene

  • MSP23
  • natural killer-enhancing factor A
  • NKEF-A
  • NKEFA
  • PAG
  • PAGA
  • PAGB
  • proliferation-associated gene A
  • PRX1
  • PRXI
  • TDPX2

Frequently Asked Questions

Treatment for epi-cblC primarily involves vitamin B12 (cobalamin) supplementation, often in high doses, to help improve the function of the affected metabolic pathways. Dietary management, including a low-protein diet, may also be necessary to reduce the accumulation of toxic metabolites. Regular monitoring of metabolic markers and neurological development is essential, along with supportive therapies for specific symptoms like seizures or developmental delays.
Key symptoms of epi-cblC type methylmalonic acidemia with homocystinuria often include developmental delay, intellectual disability, seizures, and neurological problems. Eye defects, such as optic atrophy or retinal abnormalities, and blood abnormalities like anemia or thrombocytopenia, are also common. These symptoms typically appear in infancy or early childhood.
Diagnosis involves blood and urine tests to detect elevated levels of methylmalonic acid and homocysteine. Genetic testing for PRDX1 variants is crucial. The significance of 'promoter hypermethylation' is that it's an epigenetic change, meaning it affects how the gene is expressed without altering the DNA sequence itself. This hypermethylation silences the PRDX1 gene, leading to the disorder, and is a specific diagnostic marker for epi-cblC.
The long-term outlook for individuals with epi-cblC varies depending on the severity of the condition and the timing and effectiveness of treatment. Early diagnosis and consistent intervention with vitamin B12 supplementation and dietary management can significantly improve outcomes, potentially mitigating the severity of developmental delay, neurological issues, and other complications, thereby enhancing their quality of life.
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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