Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2184
MIM: 613871
HGNC: 3579
Ensembl: ENSG00000103876
Variants:
dbSNP: 2184
ClinVar: 2184
TCGA: ENSG00000103876
COSMIC: FAH
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36369907 | 2023 | 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). | 1 |
| 36369907 | 2023 | 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). | 1 |
| 33670179 | 2021 | Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I. | 2 |
| 34382351 | 2021 | Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-) IL2rg(-/-) Rats. | 4 |
| 34678209 | 2021 | Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production. | 3 |
| 33670179 | 2021 | Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I. | 2 |
| 34382351 | 2021 | Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-) IL2rg(-/-) Rats. | 4 |
| 34678209 | 2021 | Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production. | 3 |
| 31584309 | 2020 | Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts. | 5 |
| 33218190 | 2020 | E3 Ubiquitin Ligase APC/C(Cdh1) Negatively Regulates FAH Protein Stability by Promoting Its Polyubiquitination. | 1 |
| 31584309 | 2020 | Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts. | 5 |
| 33218190 | 2020 | E3 Ubiquitin Ligase APC/C(Cdh1) Negatively Regulates FAH Protein Stability by Promoting Its Polyubiquitination. | 1 |
| 30843237 | 2019 | A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency. | 10 |
| 31568711 | 2019 | Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant. | 4 |
| 30843237 | 2019 | A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency. | 10 |
Citation
Dessen P
FAH (fumarylacetoacetate hydrolase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62975/fah-(fumarylacetoacetate-hydrolase)
