产品介绍 靶标: PHEX 产品别名: HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH; PHEX; phosphate regulating endopeptidase X-linked; phosphate regulating endopeptidase X-linked; phosphate-regulating neutral endopeptidase PHEX; PHEX peptidase; X-linked hypophosphatemia protein; metalloendopeptidase homolog PEX; phosphate regulating endopeptidase homolog X-linked; phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets); vitamin D-resistant hypophosphatemic rickets protein; 维生素D低磷性佝偻病蛋白; 背景信息: 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. It is mapped to Xp22.11. 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. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. 宿主:Rbt |
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