Cell Biology Antibodies 15
Anti-PHEX Antibody (CAB7918)
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- SKU:
- CAB7918
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
| Antibody Name: | Anti-PHEX Antibody |
| Antibody SKU: | CAB7918 |
| Antibody Size: | 20µL, 50µL |
| Application: | WB |
| Reactivity: | Human, Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 520-749 of human PHEX (NP_000435.3). |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human, Mouse, Rat |
| Positive Samples: |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 520-749 of human PHEX (NP_000435.3). |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | WLRK AVPK TEWF TNPT TVNA FYSA STNQ IRFP AGEL QKPF FWGT EYPR SLSY GAIG VIVG HEFT HGFD NNGR KYDK NGNL DPWW STES EEKF KEKT KCMI NQYS NYYW KKAG LNVK GKRT LGEN IADN GGLR EAFR AYRK WIND RRQG LEEP LLPG ITFT NNQL FFLS YAHV RCNS YRPE AARE QVQI GAHS PPQF RVNG AISN FEEF QKAF NCPP NSTM NRGM DSCR LW |
| Gene ID: | 5251 |
| Uniprot: | P78562 |
| Cellular Location: | Membrane, Single-pass type II membrane protein |
| Calculated MW: | 86kDa |
| Observed MW: | Refer to figures |
| Synonyms: | PHEX, HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH |
| Background: | The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. |
| UniProt Protein Function: | PHEX: Probably involved in bone and dentin mineralization and renal phosphate reabsorption. Defects in PHEX are a cause of hypophosphatemic rickets, X-linked dominant (XLHR). XLHR 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. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000. Belongs to the peptidase M13 family. |
| UniProt Protein Details: | Protein type:Membrane protein, integral; Protease; EC 3.4.24.- Chromosomal Location of Human Ortholog: Xp22.2-p22.1 Cellular Component: integral to plasma membrane; plasma membrane Molecular Function:zinc ion binding Biological Process: cell-cell signaling; protein modification process; proteolysis; skeletal development Disease: Hypophosphatemic Rickets, X-linked Dominant |
| NCBI Summary: | The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
| UniProt Code: | P78562 |
| NCBI GenInfo Identifier: | 2499917 |
| NCBI Gene ID: | 5251 |
| NCBI Accession: | P78562.1 |
| UniProt Secondary Accession: | P78562,O00678, Q13646, Q2M325, Q93032, Q99827, |
| UniProt Related Accession: | P78562 |
| Molecular Weight: | 86,474 Da |
| NCBI Full Name: | Phosphate-regulating neutral endopeptidase |
| NCBI Synonym Full Names: | phosphate regulating endopeptidase homolog, X-linked |
| NCBI Official Symbol: | PHEX |
| NCBI Official Synonym Symbols: | HYP; PEX; XLH; HPDR; HYP1; LXHR; HPDR1 |
| NCBI Protein Information: | phosphate-regulating neutral endopeptidase |
| UniProt Protein Name: | Phosphate-regulating neutral endopeptidase |
| UniProt Synonym Protein Names: | Metalloendopeptidase homolog PEX; Vitamin D-resistant hypophosphatemic rickets protein; X-linked hypophosphatemia protein; HYP |
| Protein Family: | Phosphate-regulating neutral endopeptidase |
| UniProt Gene Name: | PHEX |
| UniProt Entry Name: | PHEX_HUMAN |
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