Product Name
FAH, Recombinant Protein
Full Product Name
Recombinant Human FAH Protein
Product Synonym Names
Fumarylacetoacetase; FAA; Beta-diketonase; Fumarylacetoacetate hydrolase
Product Gene Name
FAH recombinant protein
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
SFIPVAEDSD FPIHNLPYGV FSTRGDPRPR IGVAIGDQIL DLSIIKHLFT GPVLSKHQDV FNQPTLNSFM GLGQAAWKEA RVFLQNLLSV SQARLRDDTE LRKCAFISQA SATMHLPATI GDYTDFYSSR QHATNVGIMF RDKENALMPN WLHLPVGYHG RASSVVVSGT PIRRPMGQMK PDDSKPPVYG ACKLLDMELE MAFFVGPGNR LGEPIPISKA HEHIFGMVLM NDWSARDIQK WEYVPLGPFL GKSFGTTVSP WVVPMDALMP FAVPNPKQDP RPLPYLCHDE PYTFDINLSV NLKGEGMSQA ATICKSNFKY MYWTMLQQLT HHSVNGCNLR PGDLLASGTI SGPEPENFGS MLELSWKGTK PIDLGNGQTR KFLLDGDEVI ITGYCQGDGY RIGFGQCAGK VLPALLPSVD HHHHHH
3D Structure
ModBase 3D Structure for P16930
Purity/Purification
Greater than 95% as determined by reducing SDS-PAGE.
Form/Format
Lyophilized from a 0.2 muM filtered solution of PBS.
Endotoxin
Less than 0.1 ng/mug (1 IEU/mug) as determined by LAL test.
Directions for Use
Always centrifuge tubes before opening. Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100 mug/ml. Dissolve the lyophilized protein in 1X PBS. Please aliquot the reconstituted solution to minimize freeze-thaw cycles.
Preparation and Storage
Lyophilized protein should be stored at -20 degree C, though stable at room temperature for 3 weeks. Reconstituted protein solution can be stored at 2-8 degree C for 2-7 days. Aliquots of reconstituted samples are stable at -20 degree C for 3 months.
Other Notes
Small volumes of FAH recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
FAH recombinant protein
Recombinant Human FAH Protein is produced by our mammalian expression system and the target gene encoding Ser2-Ser419 is expressed with a 6His tag at the C-terminus.
Applications Tested/Suitable for FAH recombinant protein
ELISA (EIA),Western Blot (WB), SDS-PAGE, Mass Spectrometry (MS)
NCBI/Uniprot data below describe general gene information for FAH. It may not necessarily be applicable to this product.
NCBI Accession #
NP_000128.1
[Other Products]
NCBI GenBank Nucleotide #
NM_000137.2
[Other Products]
UniProt Primary Accession #
P16930
[Other Products]
UniProt Secondary Accession #
Q53XA7; B2R9X1; D3DW95[Other Products]
UniProt Related Accession #
P16930[Other Products]
Molecular Weight
38,614 Da
NCBI Official Full Name
fumarylacetoacetase
NCBI Official Synonym Full Names
fumarylacetoacetate hydrolase
NCBI Official Symbol
FAH??[Similar Products]
NCBI Protein Information
fumarylacetoacetase
UniProt Protein Name
Fumarylacetoacetase
UniProt Synonym Protein Names
Beta-diketonase; Fumarylacetoacetate hydrolase
Protein Family
Fumarylacetoacetase
UniProt Gene Name
FAH??[Similar Products]
UniProt Synonym Gene Names
FAA??[Similar Products]
UniProt Entry Name
FAAA_HUMAN
NCBI Summary for FAH
This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
UniProt Comments for FAH
FAH: Defects in FAH are the cause of tyrosinemia type 1 (TYRO1). An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment. Belongs to the FAH family.
Protein type: Amino Acid Metabolism - tyrosine; EC 3.7.1.2; Hydrolase
Chromosomal Location of Human Ortholog: 15q25.1
Cellular Component: cytosol
Molecular Function: fumarylacetoacetase activity; protein binding
Biological Process: L-phenylalanine catabolic process
Disease: Tyrosinemia, Type I
Research Articles on FAH
1. FAH gene mutation is associated with tyrosinemia type 1.
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
