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]

  • Response to oxygen radical
  • Electron transport chain
  • Cellular response to oxidative stress
  • Cell redox homeostasis
  • Oxidation-reduction process
  • Glucocorticoid deficiency 5
  • Familial glucocorticoid deficiency
  • Familial isolated dilated cardiomyopathy
  • Thyroid hormone resistance, generalized, autosomal dominant
  • Generalized resistance to thyroid hormone
  • General Cardiomyopathy
  • Dilated Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

HM-VUS Prevalence

% 0.153217568947906

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants

G=0.000317(79/249562,GnomAD_exome)
G=0.000430(54/125568,TOPMED)
G=0.000215(26/120686,ExAC)
G=0.00109(86/78696,PAGE_STUDY)
G=0.00019(6/31386,GnomAD)
G=0.00016(2/12276,GO-ESP)
G=0.00045(5/11176,ALFAProject)
G=0.0004(2/5008,1000G)

G=0.000175(22/125568,TOPMED)
G=0.000109(12/110414,ExAC)
G=0.00025(8/31402,GnomAD)
G=0.00024(3/12498,GO-ESP)
G=0.00036(4/11176,ALFAProject)
G=0.0005(2/3854,ALSPAC)
G=0.0000(0/3708,TWINSUK)

G=0.000467(116/248594,GnomAD_exome)
G=0.000526(66/125568,TOPMED)
G=0.000370(44/119064,ExAC)
G=0.00096(91/94972,ALFAProject)
G=0.00033(26/78692,PAGE_STUDY)
G=0.00051(16/31382,GnomAD)
G=0.00055(7/12828,GO-ESP)
G=0.0013(5/3854,ALSPAC)
G=0.0008(3/3708,TWINSUK)
G=0.002(1/534,MGP)