TXN2 Chromosome 22

Thioredoxin 2
1 variant 1 Health Risk

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What This Gene Does
This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008]
Associated Conditions (1)
Combined oxidative phosphorylation deficiency 29
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS754022333 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 29, Combined oxidative phosphorylation deficiency 29
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