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Article

Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.

Biochimica et biophysica acta - 25 May 1994

Awata H, Endo F, Tanoue A, Kitano A, Nakano Y, Matsuda I

Abstract excerpt

Fumarylacetoacetate hydrolase (FAH) is a metabolic enzyme functioning at the last step of tyrosine catabolism. Deficiency in this enzyme activity is associated with tyrosinemia type I, characterized by hypertyrosinemia, liver dysfunction, renal tubular dysfunction, liver cirrhosis, and hepatic tumors. We isolated from a human gene library a chromosomal gene related to FAH. The human FAH gene is 30 kilobases long...

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Source

Identifiers

PMID: 8204664
DOI: 10.1016/0925-4439(94)90025-6

Genes

FAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.PMID 8204664Read ↗

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Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.Semantic proximity Read ↗

Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.Semantic proximity Read ↗

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Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.Semantic proximity Read ↗

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).Semantic proximity Read ↗

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