[HTML][HTML] The hemochromatosis founder mutation in HLA-H disrupts β2-microglobulin interaction and cell surface expression
JN Feder, Z Tsuchihashi, A Irrinki, VK Lee… - Journal of Biological …, 1997 - ASBMB
We recently reported the positional cloning of a candidate gene for hereditary
hemochromatosis (HH), calledHLA-H, which is a novel member of the major
histocompatibility complex class I family. A mutation in this gene, cysteine 282→ tyrosine
(C282Y), was found to be present in 83% of HH patient DNAs, while a second variant,
histidine 63→ aspartate (H63D), was enriched in patients heterozygous for C282Y. The
functional relevance of either mutation has not been described. Co-immunoprecipitation …
hemochromatosis (HH), calledHLA-H, which is a novel member of the major
histocompatibility complex class I family. A mutation in this gene, cysteine 282→ tyrosine
(C282Y), was found to be present in 83% of HH patient DNAs, while a second variant,
histidine 63→ aspartate (H63D), was enriched in patients heterozygous for C282Y. The
functional relevance of either mutation has not been described. Co-immunoprecipitation …