TXN2
Function
Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Possesses a dithiol-reducing activity.
Involvement in disease
Combined oxidative phosphorylation deficiency 29
COXPD29
An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the thioredoxin family.
Tissue Specificity
Widely expressed in adult (at protein level) and fetal tissues.
Cellular localization
- Mitochondrion
Alternative names
TRX2, TXN2, MTRX, Mt-Trx, Thioredoxin-2