Property Summary

NCBI Gene PubMed Count 46
Grant Count 93
R01 Count 51
Funding $14,054,353.93
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)

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.
More...

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...