TXN2 gene

thioredoxin 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Possesses a dithiol-reducing activity.

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 29

From UniProt:

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. [MIM:616811]

Cytogenetic Location: 22q13.1, which is the long (q) arm of chromosome 22 at position 13.1

Molecular Location: base pairs 36,467,036 to 36,482,025 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q13.1, which is the long (q) arm of chromosome 22 at position 13.1
  • COXPD29
  • MT-TRX
  • MTRX
  • TRX2