The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

Article Details

Citation

Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

Nat Genet. 2000 May;25(1):14-5.

PubMed ID
10802645 [ View in PubMed
]
Abstract

Haemochromatosis is a common recessive disorder characterized by progressive iron overload, which may lead to severe clinical complications. Most patients are homozygous for the C282Y mutation in HFE on 6p (refs 1-5). A locus for juvenile haemochromatosis (HFE2) maps to 1q (ref. 7). Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found in people with haemochromatosis that maps to HFE3.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Transferrin receptor protein 2Q9UP52Details