Molecular Aspects of the FAH Mutations Involved in HT1 Disease

Hereditary tyrosinemia type 1 (HT1) is caused by the lack of fumarylacetoacetate hydrolase (FAH), the last enzyme of the tyrosine catabolic pathway. Up to now, around 100 mutations in the FAH gene have been associated with HT1, and despite many efforts, no clear correlation between genotype and clin...

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Bibliographic Details
Published inAdvances in experimental medicine and biology Vol. 959; pp. 25 - 48
Main Authors Morrow, Geneviève, Angileri, Francesca, Tanguay, Robert M.
Format Book Chapter Journal Article
LanguageEnglish
Published Cham Springer International Publishing 2017
SeriesAdvances in Experimental Medicine and Biology
Subjects
Amino Acid Sequence
Animals
Fumarylacetoacetate hydrolase (FAH)
Genotype
Hereditary tyrosinemia type 1 (HT1)
Humans
Hydrolases - genetics
Mutation - genetics
Mutations
Sequence Alignment
Tyrosine - metabolism
Tyrosinemias - genetics
Tyrosinemias - metabolism
Hereditary tyrosinemia type 1 (HT1)
Mutations
Fumarylacetoacetate hydrolase (FAH)
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Summary:Hereditary tyrosinemia type 1 (HT1) is caused by the lack of fumarylacetoacetate hydrolase (FAH), the last enzyme of the tyrosine catabolic pathway. Up to now, around 100 mutations in the FAH gene have been associated with HT1, and despite many efforts, no clear correlation between genotype and clinical phenotype has been reported. At first, it seems that any mutation in the gene results in HT1. However, placing these mutations in their molecular context allows a better understanding of their possible effects. This chapter presents a closer look at the FAH gene and its corresponding protein in addition to provide a complete record of all the reported mutations causing HT1.
ISBN:9783319557793
3319557793
ISSN:0065-2598
2214-8019
DOI:10.1007/978-3-319-55780-9_3