FAH (fumarylacetoacetate hydrolase)

2014-11-01 Affiliation

Identity

HGNC

FAH

LOCATION

15q25.1

LOCUSID

2184

ALIAS

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000103876	ENST00000261755	P16930
ENSG00000103876	ENST00000261755	A0A384P5L6
ENSG00000103876	ENST00000407106	P16930
ENSG00000103876	ENST00000407106	A0A384P5L6
ENSG00000103876	ENST00000558022	H0YLC7
ENSG00000103876	ENST00000561353	H3BNP8
ENSG00000103876	ENST00000561421	P16930
ENSG00000103876	ENST00000561421	A0A384P5L6

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Tyrosine metabolism	KEGG	ko00350
Tyrosine metabolism	KEGG	hsa00350
Metabolic pathways	KEGG	hsa01100
Tyrosine degradation, tyrosine => homogentisate	KEGG	M00044
Tyrosine degradation, tyrosine => homogentisate	KEGG	hsa_M00044
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Phenylalanine and tyrosine catabolism	REACTOME	R-HSA-71182
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism	REACTOME	R-HSA-6788656

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18072279	2009	Combining fMRI and SNP data to investigate connections between brain function and genetics using parallel ICA.	112
20201926	2010	Human variation in alcohol response is influenced by variation in neuronal signaling genes.	45
15638932	2005	A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.	8
15759101	2005	Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.	7
21764616	2011	Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.	6
29497141	2018	The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.	6
27397503	2016	Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.	4
28755182	2017	Molecular Aspects of the FAH Mutations Involved in HT1 Disease.	4
11476670	2001	A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.	3
15465000	2004	Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase.	3

Citation

Dessen P

FAH (fumarylacetoacetate hydrolase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62975/fah