title: Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation.
abstract: In the present study, we correlate homozygosity for the very recently identified HJV p.R176C substitution with a juvenile hemochromatosis phenotype. We also show that the p.R176C variant fails to up-regulate the hepcidin promoter activity. Altogether, our results definitively show the R176C amino-acid change to be a novel hemojuvelin loss-of-function mutation.
authors.forename: Chandran
authors.initials: C
authors.lastname: Ka
authors.forename: Gérald
authors.initials: G
authors.lastname: Le Gac
authors.forename: Emilie
authors.initials: E
authors.lastname: Letocart
authors.forename: Isabelle
authors.initials: I
authors.lastname: Gourlaouen
authors.forename: Brigitte
authors.initials: B
authors.lastname: Martin
authors.forename: Claude
authors.initials: C
authors.lastname: Férec
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D023181:Antimicrobial Cationic Peptides / Q000235:genetics / Q000378:metabolism; D005260:Female; D058851:GPI-Linked Proteins; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D011401:Promoter Regions, Genetic
chemical_list: D023181:Antimicrobial Cationic Peptides; D058851:GPI-Linked Proteins; C578702:HAMP protein, human; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D008565:Membrane Proteins