Product Name
FAH, cDNA Clone
Full Product Name
FAH cDNA Clone
Product Gene Name
FAH cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atgtccttca tcccggtggc cgaggattcc gacttcccca tccacaacct gccctacggc gtcttctcga ccagaggcga cccaagaccg aggataggtg tggccattgg cgaccagatc ctggacctca gcatcatcaa gcacctcttt actggtcctg tcctctccaa acaccaggat gtcttcaatc agcctacact caacagcttc atgggcctgg gtcaggctgc ctggaaggag gcgagagtgt tcttgcagaa cttgctgtct gtgagccaag ccaggctcag agatgacacc gaacttcgga agtgtgcatt catctcccag gcttctgcca cgatgcacct tccagccacc ataggagact acacagactt ctattcctct cggcagcatg ctaccaacgt cggaatcatg ttcagggaca aggagaatgc gttgatgcca aattggctgc acttaccagt gggctaccat ggccgtgcct cctctgtcgt ggtgtctggc accccaatcc gaaggcccat gggacagatg aaacctgatg actctaagcc tcccgtatat ggtgcctgca agctcttgga catggagctg gaaatggctt tttttgtagg ccctggaaac agattgggag agccgatccc catttccaag gcccatgagc acatttttgg aatggtcctt atgaacgact ggagtgcacg agacattcag aagtgggagt atgtccctct cgggccattc cttgggaaga gttttgggac cactgtctct ccgtgggtgg tgcccatgga tgctctcatg ccctttgctg tgcccaaccc gaagcaggac cccaggcccc tgccgtatct gtgccatgac gagccctaca catttgacat caacctctct gttaacctga aaggagaagg aatgagccag gcggctacca tatgcaagtc caattttaag tacatgtact ggacgatgct gcagcagctc actcaccact ctgtcaacgg ctgcaacctg cggccggggg acctcctggc ttctgggacc atcagcgggc cggagccaga aaacttcggc tccatgttgg aactgtcgtg gaagggaacg aagcccatag acctggggaa tggtcagacc aggaagtttc tgctggacgg ggatgaagtc atcataacag ggtactgcca gggggatggt taccgcatcg gctttggcca gtgtgctgga aaagtgctgc ctgctctcct gccatcatga
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of FAH cdna clone 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 #
BC002527
[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
Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase), mRNA
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: Hydrolase; Amino Acid Metabolism - tyrosine; EC 3.7.1.2
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
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.
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