TXNRD3, thioredoxin reductase 3, 114112

N. diseases: 37; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
0.010 GeneticVariation disease BEFREE In patients with isolated familial glucocorticoid deficiency (FGD), in which no mutations in the genes for the ACTH receptor (<i>MC2R</i>) or its accessory protein MRAP have been found, non-classic steroidogenic acute regulatory protein (<i>StAR</i>) and <i>CYP11A1</i> mutations have been described; and more recently novel mutations in genes such as nicotinamide nucleotide transhydrogenase (<i>NNT</i>) and thioredoxin reductase 2 (<i>TRXR2</i>) involved in the maintenance of the mitochondrial redox potential and generation of NADPH important for steroidogenesis and ROS detoxication have been discovered. 28450305 2017