PRDX1 Chromosome 1

Peroxiredoxin 1
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
Peroxiredoxins
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000117450
Associated Conditions (3)
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA
cblC TYPE
DIGENIC
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1379672870 Health Risk Pathogenic METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
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