DECR1, 2,4-dienoyl-CoA reductase 1, 1666

N. diseases: 399; N. variants: 8
Disease: Trichohepatoenteric Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201405525
rs201405525
Entrez Id: 1666
Gene Symbol: DECR1
DECR1
CUI: C1857276
Disease:
Trichohepatoenteric Syndrome 		0.010 GeneticVariation BEFREE The activities of cytochrome P450 17A1, 19A1, and 21A2, critical in steroidogenesis, were similar using our purified, full-length, unmodified A287P or WT POR, as were those of several xenobiotic-metabolizing cytochromes P450, indicating that the A287P protein is functionally competent in vitro, despite its functionally deficient phenotypic behavior in vivo Differential scanning calorimetry and limited trypsinolysis studies revealed a relatively unstable A287P compared with WT protein, leading to the hypothesis that the syndrome observed in vivo results from altered POR protein stability. 27496950 2016