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- Table of Contents
Facts about Fumarylacetoacetase.
Human | |
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Gene Name: | FAH |
Uniprot: | P16930 |
Entrez: | 2184 |
Belongs to: |
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FAH family |
beta-diketonase; EC 3.7.1.2; FAA; fumarylacetoacetase; fumarylacetoacetate hydrolase (fumarylacetoacetase); Fumarylacetoacetate hydrolase
Mass (kDA):
46.374 kDA
Human | |
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Location: | 15q25.1 |
Sequence: | 15; NC_000015.10 (80152789..80186949) |
Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.
PMID: 1998338 by Phaneuf D., et al. Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.
PMID: 2336361 by Agsteribbe E., et al. Nucleotide sequence of cDNA encoding human fumarylacetoacetase.
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