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TXNRD2 thioredoxin reductase 2

Gene ID: 10587, updated on 11-Apr-2024
Gene type: protein coding
Also known as: TR; TR3; SELZ; GCCD5; TRXR2; TXNR2; TR-BETA

Summary

The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes a mitochondrial form important for scavenging reactive oxygen species in mitochondria. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms, including a few localized in the cytosol and some lacking the C-terminal Sec residue, have been found for this gene. [provided by RefSeq, Jun 2017]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections.
GeneReviews: Not available
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
GeneReviews: Not available
Glucocorticoid deficiency 5
MedGen: C4540522OMIM: 617825GeneReviews: Not available
See labs

Genomic context

Location:
22q11.21
Sequence:
Chromosome: 22; NC_000022.11 (19875522..19941818, complement)
Total number of exons:
22

Links

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