Recombinant Human FAH, GST-tagged

• Cat.No.: FAH-86H
• Product Overview: Recombinant Human FAH(1 a.a. - 419 a.a.), fused with GST-tag at N-terminal, was expressed in wheat germ.

Specification

• Species: Human
• Source: Wheat Germ
• Tag: GST
• Description: This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).
• Molecular Mass: 72.8 kDa
• AA Sequence: MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQ AAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMP NWLHLPVGYHGRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHI FGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLS VNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDL GNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS
• Applications: ELISA; WB-Re; AP; Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80°C. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) [ Homo sapiens (human) ]
• Official Symbol: FAH
• Synonyms: FAH; fumarylacetoacetate hydrolase (fumarylacetoacetase); fumarylacetoacetase; FAA; beta-diketonase; FLJ51912
• Gene ID: 2184
• mRNA Refseq: NM_000137
• Protein Refseq: NP_000128
• MIM: 613871
• UniProt ID: P16930
• Chromosome Location: 15q25.1
• Pathway: Metabolism of amino acids and derivatives; Phenylalanine and tyrosine catabolism; Tyrosine degradation, tyrosine => homogentisate
• Function: fumarylacetoacetase activity; metal ion binding