Property Summary

NCBI Gene PubMed Count 46
PubMed Score 233.45
PubTator Score 193.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
malignant mesothelioma -1.400 0.000
ependymoma -1.300 0.035
psoriasis -1.100 0.003
osteosarcoma -1.222 0.008
group 3 medulloblastoma -1.600 0.003
medulloblastoma, large-cell -1.500 0.000
pancreatic ductal adenocarcinoma liver m... -2.151 0.009
subependymal giant cell astrocytoma 1.301 0.018
Breast cancer 1.100 0.000
ductal carcinoma in situ -1.500 0.007
invasive ductal carcinoma -1.400 0.046
ovarian cancer -1.300 0.002

Synonym

Accession P16930 B2R9X1 D3DW95 Q53XA7 FAA
Symbols

Gene

FAH

PANTHER Protein Class (1)

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA EggNOG Inparanoid

Gene RIF (11)

PMID Text
24016420 Two siblings have been described with tyrosinemia type 1 complicated by reversible hypertrophic cardiomyopathy in infancy due to a FAH homozygous mutation.
23895425 Four splicing mutations affecting exonic or intronic nucleotides of the FAH gene were identified in two hereditary tyrosinemia type I patients.
22884142 Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.
22554029 Identification of novel mutations in the fumarylacetoacetase gene in Hereditary tyrosinaemia type I.
21764616 We detected 11 novel and 6 previously described pathogenic mutations in the fumarylacetoacetase gene in a cohort of 43 patients originating from the Middle East with the acute form hereditary tyrosinemia type I
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18072279 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
15759101 An immunopositive liver nodule was found in a patient with tyrosinemia having a mosaic pattern of FAH.
15638932 identification of an alternative nonsense transcript of the fah gene, which despite being subjected to nonsense-mediated mRNA decay, produces a protein in different human tissues
15465000 Data describe the metabolism of fumarylacetoacetate hydrolase mRNA harboring a nonsense mutation, W262X, in lymphoblastoid cell lines derived from hereditary tyrosinemia type I patients.
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AA Sequence

MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSF      1 - 70
MGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIM     71 - 140
FRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGN    141 - 210
RLGEPIPISKAHEHIFGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQD    211 - 280
PRPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGT    281 - 350
ISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS     351 - 419
//

Text Mined References (52)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24016420 2013 Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
23895425 2014 Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22884142 2012 Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.
22554029 2012 Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
21764616 2011 Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
More...