Product Name
FAH, Blocking Peptide
Product Synonym Names
Fumarylacetoacetase; FAA; Beta-diketonase; Fumarylacetoacetate hydrolase; FAH
Product Gene Name
FAH blocking peptide
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Antibody/Peptide Pairs
FAH peptide (MBS9218763) is used for blocking the activity of FAH antibody (MBS9205503)
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for P16930
Form/Format
Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
Tissue Location
Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues
Preparation and Storage
Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.
Other Notes
Small volumes of FAH blocking peptide 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.
NCBI/Uniprot data below describe general gene information for FAH. It may not necessarily be applicable to this product.
NCBI Accession #
P16930.2
[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: EC 3.7.1.2; Hydrolase; Amino Acid Metabolism - tyrosine
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. Four splicing mutations affecting exonic or intronic nucleotides of the FAH gene were identified in two hereditary tyrosinemia type I patients.
Precautions
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Disclaimer
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