Property Summary

NCBI Gene PubMed Count 34
Grant Count 30
R01 Count 17
Funding $3,310,443.85
PubMed Score 212.73
PubTator Score 133.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma -3.700 0.000
astrocytic glioma -1.500 0.047
oligodendroglioma -2.200 0.046
psoriasis -1.700 0.000
medulloblastoma, large-cell -2.900 0.000
spina bifida -1.754 0.045
ductal carcinoma in situ -1.600 0.004
ulcerative colitis -1.700 0.000
ovarian cancer -1.300 0.004

Gene RIF (8)

PMID Text
20877624 Observational study of gene-disease association. (HuGE Navigator)
19834535 Observational study of gene-disease association. (HuGE Navigator)
18612766 In the absence of elevated phytanic acid concentrations, clinical neurologic abnormalities in heterozygous relatives of Refsum patients are not attributable to heterozygosity for PAHX mutations.
16385451 Observational study of gene-disease association. (HuGE Navigator)
16186124 manner in which phytanoyl-CoA 2-hydroxylase (PAHX) binds to iron(II) and 2-oxoglutarate at its active site distinguishes it from that of the other human 2-oxoglutarate (2OG)-dependent oxygenase
15930519 demonstrate that both unprocessed and processed forms are able to hydroxylate a range of CoA derivatives; site-directed mutagenesis was used to support proposals for the identity of the iron binding istes of PAHX
14974078 Ten novel PHYH mutations found in Refsum disease patients.
12923223 substrate specificity of PAHX is broader than expected, so Refsum disease might be characterized by an accumulation of not only phytanic acid but also other 3-alkyl-branched fatty acids

AA Sequence

MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIK      1 - 70
NLVPDADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEIL     71 - 140
KYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLP    141 - 210
GTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISC    211 - 280
HFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL                281 - 338
//

Text Mined References (35)

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.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19834535 2009 Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
18612766 2008 Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16756494 2006 Biochemistry of mammalian peroxisomes revisited.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
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