Traffic jam for hemochromatosis mutant protein

✍ Scribed by P C Adams

• Book ID: 102239556
• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 186 KB
• Volume: 26
• Category: Article
• ISSN: 0270-9139
• DOI: 10.1002/hep.510260646

✦ Synopsis

Although the precise significance of the C282Y mutation was 20. Reyes H, Simon FR. Intrahepatic cholestasis of pregnancy: an estrogennot elucidated in this study, an interesting observation was related disease. Semin Liver Dis 1993;13:289-301. that a second mutation in HLA-H, designated H63D, did not cause a defect in intracellular trafficking. This is consistent

TRAFFIC JAM FOR HEMOCHROMATOSIS

with the clinical observation that H63D is a minor mutation MUTANT PROTEIN in hemochromatosis with significant expression in the nor-Feder JN, Tsuchihashi Z, Irrinki A, Lee V, Mapa F, Morikang mal population. 3 There has been no evidence that hemochro-E, Prass C, et al. The hemochromatosis founder mutation matosis patients have abnormalities in serum b-2-microin HLA-H disrupts b-2-microglobulin interaction and cell globulin or mutations in the gene that encodes this protein. surface expression.