產(chǎn)品編號(hào) | bs-42468P |
英文名稱 | Recombinant human PHEX protein, N-His |
中文名稱 | 重組人維生素D低磷性佝僂病蛋白 |
別 名 | HPDR; HPDR1; HYP; HYP1; LXHR; Metalloendopeptidase homolog PEX; PEX; Phex; PHEX_HUMAN; Phosphate regulating endopeptidase homolog X linked; Phosphate regulating gene with homologies to endopeptidases on the X chromosome; Phosphate-regulating neutral endop |
理論分子量 | 59.1kDa |
性 狀 | Liquid |
濃 度 | >1mg/ml |
純 度 | >90% as determined by SDS-PAGE |
緩 沖 液 | 20mM Tris-HCL (pH=8.0) with 8M Urea |
保存條件 | Stored at -70℃ or -20℃. Avoid repeated freeze/thaw cycles. |
注意事項(xiàng) | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
產(chǎn)品介紹 |
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. SWISS: P78562 Gene ID: 5251 |
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