C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) A61K 48/00 (2006.01) A61P 43/00 (2006.01) C07K 14/47 (2006.01) C07K 14/705 (2006.01) C07K 16/18 (2006.01) C07K 16/28 (2006.01) C12N 15/63 (2006.01) C12N 15/85 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/566 (2006.01)
Patent
CA 2462140
A mutant, human ferroportin-1 protein and encoding nucleic acid are provided. The mutant ferroportin-1 protein has a deletion of valine 162 compared to wild- type ferroportin-1 protein. The mutant protein and nucleic acid may be useful in detection of a predisposition to iron overload disorders such as haemochromatosis. Furthermore, it is proposed that the valine 162 deletion is a loss-of-function mutation that may underlie iron overload disorders such as haemochromatosis. Therefore, methods of both diagnosis and treatment of haemochromatosis are provided.
L'invention concerne une protéine ferroportine 1 humaine mutante et l'acide nucléique codant. La protéine ferroportine 1 mutante diffère de la protéine ferroportine 1 de type sauvage en ce qu'elle comporte une délétion de valine 162. La protéine mutante et l'acide nucléique peuvent être utiles dans la détection d'une prédisposition à des troubles impliquant une surcharge en fer tels que l'hémochromatose. De plus, la délétion de valine 162 constitue une mutation induisant une perte de fonction susceptible d'être à l'origine de troubles impliquant une surcharge en fer tels que l'hémochromatose. L'invention concerne aussi des méthodes de diagnostic et de traitement de l'hémochromatose.
Arden Katherine
Pedersen Palle
Subramaniam Nathan
Wallace Daniel
Deeth Williams Wall Llp
The Council Of The Queensland Institute Of Medical Research
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