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fumarylacetoacetate hydrolase : ウィキペディア英語版 | fumarylacetoacetate hydrolase
Fumarylacetoacetase is an enzyme that in humans is encoded by the ''FAH'' gene located on chromosome 15. The FAH gene is thought to be involved in the catabolism of the amino acid phenylalanine in human.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2184 )〕 == Structure ==
The FAH gene is located on the chromosome 15q25.1 region and contains 14 exons. It encodes a protein that is 46kDa in size. Multiple isoforms of the protein have been discovered that arose from alternative splicing. The gene is mainly expressed in the liver and the kidney.
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