TXNRD1, thioredoxin reductase 1, 7296

N. diseases: 136; N. variants: 21
Disease: Ichthyoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.010 GeneticVariation disease BEFREE Further oxidation of this substrate by the fatty alcohol:nicotinamide-adenine dinucleotide oxidoreductase (FAO) enzyme complex, in which one component, ALDH3A2, is known to be mutated in Sjögren-Larsson syndrome (characterized by ichthyosis and spastic paraplegia), would lead to 20-carboxy-(R)-trioxilin A3. 16436457 2006