FAH

GENE INFORMATION

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Gene name

FAH

Synonyms

Description

Fumarylacetoacetate hydrolase (fumarylacetoacetase) (HGNC Symbol)

Entrez gene summary

This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]

Chromosome

15

Cytoband

q25.1

Chromosome location (bp)

80444832 - 80479288

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000103876 (version 75.37)

Entrez gene

2184

UniProt

P16930 (UniProt - Evidence at protein level)

neXtProt

NX_P16930

Antibodypedia

FAH antibodies
 

PROTEIN VIEW

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FAH-001
 
FAH-004
 
FAH-005
 
FAH-006
 
FAH-007
 
FAH-014
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FAH-001 ENSP00000385080
ENST00000407106
P16930
Show all »
Show » Show » 419 46.4 No 0
FAH-004 ENSP00000454271
ENST00000539156
Q53XA7
Show all »
Show » Show » 349 38.6 No 0
FAH-005 ENSP00000261755
ENST00000261755
P16930
Show all »
Show » Show » 419 46.4 No 0
FAH-006 ENSP00000453347
ENST00000561421
P16930
Show all »
Show » Show » 419 46.4 No 0
FAH-007 ENSP00000453152
ENST00000558022
H0YLC7
Show all »
Show » Show » 161 18 No 0
FAH-014 ENSP00000454952
ENST00000561353
Show » Show » 60 6.5 No 0