维生素D低磷性佝偻病蛋白
规格：1mg/1ml
英文名： PHEX
别名： 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
分子量： 86kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from Human PHEX
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：细胞膜
维生素D低磷性佝偻病蛋白产品介绍：background: 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 维生素D低磷性佝偻病蛋白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. Function: Probably involved in bone and dentin mineralization and renal phosphate reabsorption. Subcellular Location: Membrane. Tissue Specificity: Lymphocytes and fetal brain; not in ***** brain, placenta, skeletal muscle and pancreas; not in ***** and fetal heart, lung, liver and kidney. DISEASE: Defects in PHEX are a cause of X-linked hypophosphatemic rickets (HYP) [MIM:307800]. HYP is an X-linked dominant disorder维生素D低磷性佝偻病蛋白 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. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000. Similarity: Belongs to the peptidase M13 family. Database links: UniProtKB/Swiss-Prot: P78562.1 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
维生素D低磷性佝偻病蛋白产品应用：ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：发育生物学 干细胞
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid