Property Summary

NCBI Gene PubMed Count 34
PubMed Score 212.73
PubTator Score 133.67

Knowledge Summary


No data available


  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma -3.700 6.3e-08
astrocytic glioma -1.500 4.7e-02
oligodendroglioma -2.200 4.6e-02
psoriasis -1.700 1.4e-08
medulloblastoma, large-cell -2.900 4.9e-04
spina bifida -1.754 4.5e-02
ductal carcinoma in situ -1.600 4.2e-03
ulcerative colitis -1.700 2.1e-06
ovarian cancer -1.300 4.1e-03

Protein-protein Interaction (2)

Gene RIF (8)

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


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.
16186124 2005 Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.
15930519 2005 Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14974078 2004 Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
12923223 2003 Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?
12767919 2003 A novel murine long-chain acyl-CoA synthetase expressed in brain participates in neuronal cell proliferation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11574539 2001 Roles of phytanoyl-CoA alpha-hydroxylase in mediating the expression of human coagulation factor VIII.
11555634 2001 Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.
11549466 2001 Studies on phytanoyl-CoA 2-hydroxylase and synthesis of phytanoyl-coenzyme A.
10866807 2000 Phytanoyl-CoA hydroxylase activity is induced by phytanic acid.
10767344 2000 Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
10744784 2000 Phytanoyl-CoA hydroxylase: recognition of 3-methyl-branched acyl-coAs and requirement for GTP or ATP and Mg(2+) in addition to its known hydroxylation cofactors.
10709665 1999 Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
10686344 2000 Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase.
10588950 1999 Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation.
10051602 1999 Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein.
9565335 1998 Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders.
9326940 1997 Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
9326939 1997 Identification of PAHX, a Refsum disease gene.
9266377 1997 Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
9221344 1997 Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease.
8954107 1996 Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans.
2433405 1987 Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation.