Title : Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.

Pub. Date : 1997 Nov 11

PMID : 9356458






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Most HH patients are homozygous for a Cys-282-->Tyr (C282Y) mutation in HFE gene, which has been shown to disrupt interaction with beta2-microglobulin; a second mutation, His-63-->Asp (H63D), is enriched in HH patients who are heterozygous for C282Y mutation. Cysteine beta-2-microglobulin Homo sapiens