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Key Documents

SAB2108553

Sigma-Aldrich

Anti-FAH

IgG fraction of antiserum

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About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

biological source

rabbit

Quality Level

100

conjugate

unconjugated

antibody form

IgG fraction of antiserum

antibody product type

primary antibodies

clone

polyclonal

form

buffered aqueous solution

mol wt

46 kDa

species reactivity

dog, horse, human, mouse, rat

concentration

0.5-1 mg/mL

technique(s)

immunoblotting: suitable
immunohistochemistry: suitable

accession no.

NM_000137

UniProt accession no.

P16930

shipped in

wet ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... FAH(2184)

General description

The FAH gene is mapped to human chromosome 15q25.1. The encoded protein consists of 419 amino acids and 14 coding exons.

Immunogen

Synthetic peptide directed towards the C terminal region of human FAH

Biochem/physiol Actions

FAH (fumarylacetoacetate hydrolase) catalyzes the last step in tyrosine catabolic pathway. FAH deficiency leads to hereditary tyrosinemia type 1. FAH mutations eventually lead to Renal Fanconi Syndrome, due to severe liver cirrhosis and renal tubular acidosis caused by accumulation of toxic metabolites such as fumarylacetoacetate.
FAH is the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia.This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).

Sequence

Synthetic peptide located within the following region: AATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFG

Physical form

Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

Disclaimer

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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Storage Class Code

10 - Combustible liquids

WGK

WGK 3

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Certificates of Analysis (COA)

Search for Certificates of Analysis (COA) by entering the products Lot/Batch Number. Lot and Batch Numbers can be found on a product’s label following the words ‘Lot’ or ‘Batch’.

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Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Morrow G, et al.
Advances in Experimental Medicine and Biology, 25-48 (2017)
Silent tyrosinemia type I without elevated tyrosine or succinylacetone associated with liver cirrhosis and hepatocellular carcinoma.
Blackburn P R, et al.
Human Mutation, 37(10), 1097-1105 (2016)
Marco De Giorgi et al.
Molecular therapy. Methods & clinical development, 21, 656-669 (2021-06-19)
Clinical application of somatic genome editing requires therapeutics that are generalizable to a broad range of patients. Targeted insertion of promoterless transgenes can ensure that edits are permanent and broadly applicable while minimizing risks of off-target integration. In the liver
Mercedes Barzi et al.
Nature communications, 15(1), 1955-1955 (2024-03-05)
Clinical translation of AAV-mediated gene therapy requires preclinical development across different experimental models, often confounded by variable transduction efficiency. Here, we describe a human liver chimeric transgene-free Il2rg-/-/Rag2-/-/Fah-/-/Aavr-/- (TIRFA) mouse model overcoming this translational roadblock, by combining liver humanization with
Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong
Mak CM, et al.
Clinical Biochemistry, 46(1-2), 155-159 (2013)
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