Recombinant Human FAH, His-tagged

• Cat.No.: FAH-85H
• Product Overview: Recombinant Human Fumarylacetoacetase/FAH is produced by our mammalian expression system in human cells. The target protein is expressed with sequence (Ser2-Ser419) of Human FAH fused with a polyhistidine tag at the C-terminus.

Specification

• Species: Human
• Source: HEK293
• Tag: His
• Protein Length: 2-419 a.a.
• Description: Fumarylacetoacetase belongs to the FAH family. Fumarylacetoacetase is primary expressed in liver and kidney. It exists as a homodimer and catalyzes the hydrolysis of 4-fumarylacetoacetate into fumarate and acetoacetate. Defects in Fumarylacetoacetase cause tyrosinemia type 1, which is congenital metabolism defect characterized by elevated levels of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include renal tubular injury, self-mutilation, hepatic necrosis, episodic weakness, and seizures.
• Form: Ser2-Ser419
• AA Sequence: MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQP TLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSS RQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKL LDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVS PWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFKYMYWT MLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEV IITGYCQGDGYRIGFGQCAGKVLPALLPSVDHHHHHH
• Endotoxin: Less than 0.1 ng/μg (1 IEU/μg).
• Purity: Greater than 95% as determined by SEC-HPLC and reducing SDS-PAGE.

Gene Information

• Gene Name: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) [ Homo sapiens ]
• 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: 15q23-q25
• Pathway: Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of amino acids and derivatives, organism-specific biosystem; Phenylalanine and tyrosine catabolism, organism-specific biosystem; Tyrosine degradation, tyrosine => homogentisate, organism-specific biosystem; Tyrosine degradation, tyrosine =>
• Function: catalytic activity; fumarylacetoacetase activity; fumarylacetoacetase activity; hydrolase activity; metal ion binding