PRDX6

Chr 1

peroxiredoxin 6

Also known as: 1-Cys, AOP2, HEL-S-128m, LPCAT-5, NSGPx, PRX, aiPLA2, p29

NCBI Gene: 9588 ENSG00000117592 UniProt: P30041 OMIM: 602316

This gene encodes a bifunctional antioxidant enzyme that reduces hydrogen peroxide and organic hydroperoxides to protect cells from oxidative damage, and also functions as a phospholipase to regulate phospholipid turnover. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy. The gene is not highly constrained against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected patients.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

136

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.59

LOEUF

Mechanism· predicted