PRDX3 Chromosome 10
Peroxiredoxin 3
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What This Gene Does
This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
Peroxiredoxins
Locus Type
gene with protein product
Location
10q26.11
Ensembl
ENSG00000165672
Associated Conditions (5)
Spinocerebellar ataxia
autosomal recessive 32
Corneal dystrophy
punctiform and polychromatic pre-descemet
Autosomal recessive cerebellar ataxia
Key Variants
RS140609531
Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia
Health Risk
RS2493964760
Likely pathogenic
Health Risk
RS1368897658
Pathogenic
Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia
Health Risk
RS2133650052
Pathogenic
Corneal dystrophy, punctiform and polychromatic pre-descemet, Corneal dystrophy
Health Risk
RS2133659317
Pathogenic
Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia
Health Risk
RS2493973819
Pathogenic
Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia
Health Risk
RS548327727
Pathogenic
Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia
Health Risk
RS925412397
Pathogenic
Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia
Health Risk
RS371560438
Pathogenic/Likely pathogenic
Autosomal recessive cerebellar ataxia, Spinocerebellar ataxia, autosomal recessive 32
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140609531 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia |
| RS2493964760 | Health Risk | Likely pathogenic | — |
| RS1368897658 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia |
| RS2133650052 | Health Risk | Pathogenic | Corneal dystrophy, punctiform and polychromatic pre-descemet, Corneal dystrophy |
| RS2133659317 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia |
| RS2493973819 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia |
| RS548327727 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia |
| RS925412397 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 32, Spinocerebellar ataxia |
| RS371560438 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive cerebellar ataxia, Spinocerebellar ataxia, autosomal recessive 32 |