Recombinant human PHEX protein, N-His, APC Conjugated
Catalogue Number: BS-42468P-APC-BSS
| Manufacturer: | Bioss Inc |
| Physical state: | Aqueous |
| Type: | Protein - Conjugated |
| Host Cell: | E.coli |
| Shipping Condition: | Blue Ice |
| Unit(s): | 100 ug, 500 ug |
Description
Description: 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.
Additional Text
Gene ID
5251
Gene Name
PHEX
Uniprot ID
P78562
Protein Tag
HIS Tag
Storage Note
Store at -20°C. Aliquot into multiple vials to avoid repeated freeze-thaw cycles.
Endotoxin
Not Tested
Short Description
Recombinant human PHEX protein in E.coli with N-His. It contains the amino acid sequence of 145-616/749
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