Web23 Oct 2024 · Codon 245 is the mouse ortholog of codon 250, which is involved in the C250Y mutation ( 604720.0001) of TFR2 in human hemochromatosis, and is located in a region that is conserved between the mouse and human genomes. Fleming et al. (2002) observed that by 4 weeks of age, mice homozygous for the Y245X mutation developed periportal … Web6 Dec 2014 · Hereditary hemochromatosis (HH) is a genetically heterogeneous disorder characterized by elevated iron absorption from the diet, with consequent iron overload …
Hereditary Hemochromatosis Protein, HFE, Interaction with …
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TFR2 gene: MedlinePlus Genetics
Web#TF2 #TF2meme WebThe gene TFR2 was recently isolated and mapped to 7q22 by radiation hybrids 10. TFR2 shows 66% homology to the transferrin receptor (encoded by TFRC) in its extracellular domain, binds transferrin ... WebRed TFR2 in Hypogonadotropic hypogonadism idiopathic Version 2.2 Latest signed off version: v2.1 (23 Jun 2024) review BIALLELIC, autosomal or pseudoautosomal Sources. Wessex and West Midlands GLH; Expert Review Red; NHS GMS; South West GLH; Phenotypes. Haemochromatosis type 3 (OMIM 604250) Green TFR2 in Dilated … fiona landbw