Home > Specialties > Reagents, Molecular Assay, Gene Anomaly, Mutation, HFE

Reagents, Molecular Assay, Gene Anomaly, Mutation, HFE

Definition : Molecular assay reagents intended to identify mutations in the hemochromatosis (HFE) gene, located at chromosome 6p21.3, which encodes instructions for producing a protein located on the cell surface that helps to regulate iron metabolism. Mutations at this locus have been identified in patients with late adult onset of hereditary hemochromatosis and X-linked sideroblastic anemia; they are also associated with severe variants of porphyria variegate and porphyria cutanea tarda.

Entry Terms : "Porphyria Cutanea Tarda Gene Mutation Detection Reagents" , "Porphyria Variegate Gene Mutation Detection Reagents" , "HFE- Hereditary Hemochromatosis (HFE-HHC) Gene Mutation Detection Reagents" , "Hereditary Hemochromatosis (HHC) Gene Mutation Detection Reagents" , "Hemochromatosis Gene Mutation Detection Reagents" , "HFE Gene Mutation Detection Reagents" , "Hemochromatosis Diagnostic Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Monogenic, Hemochromatosis" , "Hemochromatosis Determination Reagents"

UMDC code : 24468

   

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