PRDX3

Function

Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides (PubMed:17707404, PubMed:29438714, PubMed:33889951, PubMed:7733872). Acts synergistically with MAP3K13 to regulate the activation of NF-kappa-B in the cytosol (PubMed:12492477). Required for the maintenance of physical strength (By similarity).

Involvement in disease

Spinocerebellar ataxia, autosomal recessive, 32

SCAR32

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR32 is characterized by the onset of gait ataxia in the second or third decades of life. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy. Atrophy can extend to the brainstem and medullary olives.

None

The disease is caused by variants affecting the gene represented in this entry.

Corneal dystrophy, punctiform and polychromatic pre-Descemet

PPPCD

An autosomal dominant corneal dystrophy characterized by the presence of punctiform, multicolored opacities in the posterior stroma, immediately anterior to Descemet membrane. Affected individuals are typically asymptomatic.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylated by LRRK2; phosphorylation reduces perodixase activity.

The enzyme can be inactivated by further oxidation of the cysteine sulfenic acid (C(P)-SOH) to sulphinic acid (C(P)-SO2H) and sulphonic acid (C(P)-SO3H) instead of its condensation to a disulfide bond.

S-palmitoylated.

Sequence Similarities

Belongs to the peroxiredoxin family. AhpC/Prx1 subfamily.

Cellular localization

• Mitochondrion
• Cytoplasm
• Early endosome
• Localizes to early endosomes in a RPS6KC1-dependent manner.

Alternative names

AOP1, PRDX3, Antioxidant protein 1, HBC189, Peroxiredoxin III, Peroxiredoxin-3, Protein MER5 homolog, Thioredoxin-dependent peroxiredoxin 3, AOP-1, Prx-III

Database links

swissprot:P30048 swissprot:Q13162 entrezGene:7001 entrezGene:10549 entrezGene:10935 entrezGene:5052 swissprot:Q06830 swissprot:P32119 omim:604769 omim:176763