GENE REFERENCE / HGNC:9352

PRDX1

peroxiredoxin 1

protein-coding gene1p34.1Gene information

What does this gene do?

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. Hydrogen peroxide is produced through chemical reactions within cells. At low levels, it 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, an ROS, is toxic to cells. If hydrogen peroxide 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 close to another gene on chromosome 1 called MMACHC. These two genes have unrelated roles in cells. The protein produced from the MMACHC gene is involved in processing vitamin B12 (also known as cobalamin).

Source: MedlinePlus, National Library of Medicine. Source publication: 2022-08-02. Source review: 2022-08.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 110
Submissions for variants in or overlapping this gene: 140
Submissions explicitly reporting this gene: 116
Alleles reported pathogenic / likely pathogenic: 5
VariationIDs with uncertain significance: 51
VariationIDs with conflicting classifications: 0

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about PRDX1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 5 alleles in PRDX1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in PRDX1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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