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Human hemochromatosis protein also known as the HFE protein is a protein which in humans is encoded by the ''HFE'' gene. The ''HFE'' gene is located on short arm of chromosome 6 at location 6p22.2. Unusually, the official gene symbol (''HFE'' for ''H''igh Iron ''Fe'') is not an abbreviation of the official name (hemochromatosis).〔(【引用サイトリンク】 url = http://www.genenames.org/data/hgnc_data.php?hgnc_id=4886 )〕 == Function == The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta-2 microglobulin (beta2M). It is thought that this protein functions to regulate circulating iron uptake by regulating the interaction of the transferrin receptor with transferrin.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3077 )〕 The ''HFE'' gene contains 7 exons spanning 12 kb. The full-length transcript represents 6 exons. HFE protein is composed of 343 amino acids. There are several components, in sequence: a signal peptide (initial part of the protein), an extracellular transferrin receptor-binding region (α1 and α2), a portion that resembles immunoglobulin molecules (α3), a transmembrane region that anchors the protein in the cell membrane, and a short cytoplasmic tail.〔 HFE expression is subjected to alternative splicing. The predominant HFE full-length transcript has ~4.2 kb.〔 Alternative HFE splicing variants may serve as iron regulatory mechanisms in specific cells or tissues. HFE is prominent in small intestinal absorptive cells, gastric epithelial cells, tissue macrophages, and blood monocytes and granulocytes,〔 and the syncytiotrophoblast, an iron transport tissue in the placenta. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「HFE (gene)」の詳細全文を読む スポンサード リンク
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