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F6181

Anti-FAH (366-380) antibody produced in rabbit

Name: Anti-FAH (366-380) antibody produced in rabbit
Brand: SIGMA

IgG fraction of antiserum, buffered aqueous solution

Synonym(s):

Anti-FAH Fumarylacetoacetase

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About This Item

UNSPSC Code:

12352203

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biological source

rabbit

conjugate

unconjugated

antibody form

IgG fraction of antiserum

antibody product type

primary antibodies

clone

polyclonal

form

buffered aqueous solution

mol wt

antigen ~46 kDa

species reactivity

human

technique(s)

western blot: 1:500-1:2,000

UniProt accession no.

P16930

shipped in

dry ice

storage temp.

−20°C

Gene Information

human ... FAH(2184)

Immunogen

synthetic peptide corresponding to amino acids 366-380 of human FAH

Application

Anti-FAH (366-380) antibody is suitable for western blot at a dilution of 1:500-1:2,000.
Yale Center for High Throughput Cell Biology IF-tested antibodies. Each antibody is tested by immunofluorescence against HUVEC cells using the Yale HTCB IF protocol. To learn more about us and Yale Center for High Throughput Cell Biology partnership, visit sigma.com/htcb-if.

Biochem/physiol Actions

FAH is the terminal enzyme in the tyrosine catabolism pathway. It is mainly expressed in the liver and kidney. Deficiency in FAH results Type 1 hereditary tyrosinemia (HT), an autosomal recessive disorder.

Physical form

Solution in 0.01 M phosphate buffered saline, pH 7.4, containing 15 mM sodium azide

Storage Class

12 - Non Combustible Liquids

wgk_germany

WGK 2

flash_point_f

Not applicable

flash_point_c

Not applicable

ppe

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)

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Certificates of Analysis (COA)

Lot/Batch Number

059K2794

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Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

Y Labelle et al.

Human molecular genetics, 2(7), 941-946 (1993-07-01)

Hereditary tyrosinemia type 1 is an autosomal recessive disease caused by a deficiency of the last enzyme in the catabolic pathway of tyrosine, fumarylacetoacetate hydrolase (FAH). To analyze the mutations involved in this disease, and as a first step towards

Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1.

Y Labelle et al.

Biochimica et biophysica acta, 1180(3), 250-256 (1993-01-22)

Fumarylacetoacetate hydrolase (FAH) is the terminal enzyme in the catabolic pathway of tyrosine. This enzyme which is mainly expressed in the liver and kidney is deficient in hereditary tyrosinemia type 1. As some affected individuals present neurologic abnormalities, we studied

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

Faiqa Imtiaz et al.

Molecular genetics and metabolism, 104(4), 688-690 (2011-07-19)

Hereditary Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder resulting from a deficiency of fumarylacetoacetase caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene. We detected 11 novel and 6 previously described pathogenic mutations in a cohort of 43

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