Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Possesses a dithiol-reducing activity.
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.
Belongs to the thioredoxin family.
Widely expressed in adult (at protein level) and fetal tissues.
TRX2, TXN2, MTRX, Mt-Trx, Thioredoxin-2
Proteins
Metabolism
18383Da
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