TXN2 Chromosome 22
Thioredoxin 2
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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
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754022333 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 29, Combined oxidative phosphorylation deficiency 29 |