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.

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 endopeptidase; Vitamin D-resistant hypophosphatemic rickets protein; X-linked hypophosphatemia protein; XLH.

Human,Mouse,Rat,Dog,Pig,Cow,Horse,Rabbit,Sheep

FC

FC 1ug/Test

86kD

5251

P78562

https://www.uniprot.org/uniprotkb/P78562

Membrane.

Lymphocytes and fetal brain; not in adult brain, placenta, skeletal muscle and pancreas; not in adult and fetal heart, lung, liver and kidney.

KLH conjugated synthetic peptide derived from Human PHEX

Rabbit

Polyclonal

IgG

affinity purified by Protein A

Liquid

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.