半岛bd体育手机客户端 介绍
基因名：
PHEX 半岛bd体育手机客户端 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：
The PHEX a 749 amino acid protein that putatively consists of an intracellular, transmembrane and extracellular domain. PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients. The PHEX protein, which is a single-pass membrane protein, is also designated HYP, X-linked hypophosphatemia protein or metalloendopeptidase homolog PEX. PHEX plays an active role in bone and dentin mineralization and renal phosphate re-absorption. X-linked hypophosphatemic rickets, also designated HYP, is an X-linked dominant disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood.
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