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PHEX
Phosphate-regulating neutral endopeptidase, X-linked also known as phosphate-regulating gene with homologies to endopeptidases on the X chromosome or metalloendopeptidase homolog PEX is an enzyme that in humans is encoded by the PHEX gene. This gene contains 18 exons and is located on the X chromosome. == Function ==
The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5251 )〕 The bone and dentin protein osteopontin (OPN) which inhibits mineralization in the skeleton and in teeth is a substrate for PHEX. In the absence of functional PHEX in the mouse model (Hyp) of X-linked hypophosphatemia, in addition to renal phosphate wasting, osteopontin and osteopontin fragments accumulate in bone and may contribute to the osteomalacia characteristic of XLH/HYP. XLH patients have soft and deformed skeletons and soft teeth that easily become infected.
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「PHEX」の詳細全文を読む
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