PRDX3

Chr 10

peroxiredoxin 3

Also known as: AOP-1, AOP1, HBC189, MER5, PPPCD, PRO1748, SCAR32, SP-22

NCBI Gene: 10935 ENSG00000165672 UniProt: P30048

This gene encodes a mitochondrial thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides, protecting cells against oxidative stress. Mutations cause corneal dystrophy with punctiform and polychromatic pre-Descemet changes and spinocerebellar ataxia, autosomal recessive 32, affecting both ocular and cerebellar systems. The gene shows both autosomal dominant and autosomal recessive inheritance patterns depending on the associated phenotype.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…