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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PHYH Gene

protein-coding   GIFtS: 61
GCID: GC10M013319

phytanoyl-CoA 2-hydroxylase

(Previous names: phytanoyl-CoA hydroxylase (Refsum disease), phytanoyl-CoA...)
 Explore 24 diseases affiliated with
PHYH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PHYH    

Aliases
for PHYH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Phytanoyl-CoA 2-Hydroxylase1 2     Phytanoyl-CoA Hydroxylase (Refsum Disease)1
PAHX1 2 3 5     LN12
PHYH11 2     LNAP12
RD1 2     Phytanoil-CoA Alpha Hydroxylase2
Phytanic Acid Oxidase2 3     Phytanoyl-CoA 2 Oxoglutarate Dioxygenase2
Phytanoyl-CoA Alpha-Hydroxylase2 3     Phytanoyl-CoA Dioxygenase, Peroxisomal2
EC 1.14.11.183 8     PhyH3
Phytanoyl-CoA Hydroxylase1     

External Ids:    HGNC: 89401   Entrez Gene: 52642   Ensembl: ENSG000001075377   OMIM: 6020265   UniProtKB: O148323   

Export aliases for PHYH gene to outside databases

Previous GC identifers: GC10M013302 GC10M013470 GC10M013323 GC10M013359 GC10M013232


Summaries
for PHYH gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PHYH:
This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of
3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations
in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with
Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding
different isoforms, have been characterized. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832
Function: Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA




Genomic Views
for PHYH gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PHYH gene promoter:
         LHX3b/Lhx3b   LHX3a/Lhx3a   STAT3   POU3F2   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PHYH promoter sequence
   Search SABiosciences Chromatin IP Primers for PHYH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHYH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p13   Ensembl cytogenetic band:  10p13   HGNC cytogenetic band: 10p13

PHYH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHYH gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M013319:  view genomic region     (about GC identifiers)

Start:
 13,319,796 bp from pter      End:
 13,344,412 bp from pter
Size:
 24,617 bases      Orientation:
 minus strand

Proteins
for PHYH gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832 (See protein sequence)
Recommended Name: Phytanoyl-CoA dioxygenase, peroxisomal precursor  
Size: 338 amino acids; 38538 Da
Cofactor: Iron
Cofactor: Ascorbate
Subunit: Interacts specifically with the immunophilin FKBP52 and PHYHIP
Subcellular location: Peroxisome
1 PDB 3D structure from and Proteopedia for PHYH:
2A1X (3D)    
Secondary accessions: A8MTS8 B1ALH5
Alternative splicing: 2 isoforms:  O14832-1   O14832-2   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for PHYH: NX_O14832

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14832

    • 4 DME Specific Peptides for PHYH (O14832)
     MLINKPPD  GFRKAISCH  YPKWEGGVNK  RNNGCLVVLPGTHKG 

    PHYH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001032626.1  NP_006205.1  

    ENSEMBL proteins: 
     ENSP00000380121   ENSP00000263038   ENSP00000380126   ENSP00000412525   ENSP00000420117  
    Reactome Protein details: O14832
    Human Recombinant Protein Products: 
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    Novus Biologicals PHYH Protein
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    Uscn Proteins for PHYH

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA9326939
    GO:0005782peroxisomal matrix TAS--


    PHYH for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PHYH

    Protein Domains /
    Families
    for PHYH gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PHYH for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008775 Phytyl_CoA_dOase

    Graphical View of Domain Structure for InterPro Entry O14832

    ProtoNet protein and cluster: O14832

    1 Blocks protein family: IPB008775 Phytanoyl-CoA dioxygenase

    UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832
    Similarity: Belongs to the PhyH family


    Function
    for PHYH gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832
    Function: Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA
    Catalytic activity: Phytanoyl-CoA + 2-oxoglutarate + O(2) = 2-hydroxyphytanoyl-CoA + succinate + CO(2)

         Genatlas biochemistry entry for PHYH:
    phytanoyl-CoA hydroxylase,41.2kDa,FKBP-associated protein,containing a cleavable peroxisomal targetting signal type 2
    (PTS2)

    Enzyme Number (IUBMB): EC 1.14.11.181 2

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PHYH:
    hsa-miR-1276
    SwitchGear 3'UTR luciferase reporter plasmid: PHYH 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI10051602
    GO:0009055electron carrier activity TAS8954107
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA--
    GO:0031418L-ascorbic acid binding IEA--


    PHYH for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Phyhtm1Safe for PHYH
         8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Phyh):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  immune system 
     liver/biliary system  nervous system  reproductive system 

    PHYH for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PHYH gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1fatty acid alpha-oxidation II
    		fatty acid alpha-oxidation II1.00
    		Alpha-oxidation of phytanate0.30
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    3Peroxisome
    		Peroxisome1.00
    4Peroxisomal lipid metabolism
    		Peroxisomal lipid metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for PHYH 
        fatty acid alpha-oxidation II

    4        Reactome Pathways for PHYH
        Alpha-oxidation of phytanate
    Metabolism
    Peroxisomal lipid metabolism
    Metabolism of lipids and lipoproteins


    1         Kegg Pathway  (Kegg details for PHYH):
        Peroxisome

    UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832
    Pathway: Lipid metabolism; fatty acid metabolism


    PHYH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PHYH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/18 Interacting proteins for PHYH (O148321, 2, 3 ENSP000002630384) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS3Q9UNS21, 3, ENSP000002687174EBI-721853,EBI-350590 I2D: score=2 STRING: ENSP00000268717
    WRAP73Q9P2S51, 3, ENSP000002707084EBI-721853,EBI-1054904 I2D: score=2 STRING: ENSP00000270708
    TOM1L1O756742, 3MINT-63080 I2D: score=5 
    WDR8Q9P2S51, 3EBI-721853,EBI-1054904 I2D: score=2 
    MAGEA11P433642, 3, ENSP000003473584MINT-66763 I2D: score=5 STRING: ENSP00000347358
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001561fatty acid alpha-oxidation TAS--
    GO:0006720isoprenoid metabolic process IDA11555634
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0097089methyl-branched fatty acid metabolic process IDA10744784


    PHYH for ontologies           About GeneDecksing



    Drugs & Compounds
    for PHYH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PHYH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PHYH

    8 HMDB Compounds for PHYH    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Hydroxyphytanoyl-CoA2-Hydroxyphytanoyl-CoA (see all 10)172787-73-4--
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    IronArmco iron (see all 19)7439-89-6--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    OxygenOxygen (see all 5)7782-44-7--
    Phytanoyl-CoAPhytanoyl-coenzyme A (see all 8)146622-45-9--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--

    2 DrugBank Compounds for PHYH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Antihemophilic FactorAHF (see all 3)--targetantagonist17139284 11574539 17016423
    Vitamin CAscorbate (see all 6)50-81-7target--17139284 17016423

    8 Novoseek chemical compound relationships for PHYH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-hydroxyphytanoyl-coa 97 5 10588950 (1), 8954107 (1), 11341778 (1), 11948235 (1)
    phytanic acid 96.7 22 10866807 (5), 10588950 (2), 8954107 (2), 18612766 (2) (see all 12)
    alpha-ketoglutarate 54 11 16186124 (5), 9326939 (1), 17956235 (1)
    fatty acid 33.3 2 17956237 (1)
    paraffin 26.4 1 2331047 (1)
    histidine 11.1 1 16186124 (1)
    iron 1.06 4 9326939 (1), 15930519 (1), 16186124 (1)
    lipid 0 1 15452860 (1)

    Search CenterWatch for drugs/clinical trials and news about PHYH / PAHX 

    Transcripts
    for PHYH gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PHYH gene (2 alternative transcripts): 
    NM_001037537.1  NM_006214.3  

    Unigene Cluster for PHYH:

    Phytanoyl-CoA 2-hydroxylase
    Hs.498732  [show with all ESTs]
    Unigene Representative Sequence: NM_001037537
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396913(uc001ime.3) ENST00000263038(uc001imf.3) ENST00000396920
    ENST00000453759 ENST00000479604 ENST00000464049 ENST00000463730

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    hsa-miR-1276
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AF023462.1 AF112977.1 BC021011.1 BC029512.1 CR542055.1 

    12 DOTS entries:

    DT.216103  DT.75120414  DT.100796169  DT.100796173  DT.92432991  DT.95107144  DT.100796168  DT.100796171 
    DT.121216358  DT.86848595  DT.92432993  DT.95268160 

    24/201 AceView cDNA sequences (see all 201):

    CR623967 BM985421 CR591194 CK822288 AV653048 CB164091 CR600223 CR623416 
    BC021011 T81584 CR597553 BU730211 N72414 CR610525 T32499 Z43616 
    BM701313 CF265136 AW195658 AW316781 BM674280 F18906 CB161551 CA426641 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PHYH    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10
    SP1:        -                 -                                                   
    SP2:                          -                                                   
    SP3:              -           -                                                   
    SP4:        -                                                                     


    ECgene alternative splicing isoforms for PHYH

    Expression
    for PHYH gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PHYH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGTCCAAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See PHYH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PHYH

    SOURCE GeneReport for Unigene cluster: Hs.498732

    UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832
    Tissue specificity: Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle

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    In Situ
    Assay Products:     
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    Orthologs
    for PHYH gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PHYH gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Phyh1 , 5 phytanoyl-CoA hydroxylase1, 5 79.59(n)1
    78.11(a)1    		   2 (3.06 cM)5
    169221  NM_010726.21  NP_034856.11 
     49190195 
    chicken
    (Gallus gallus)    		 Aves PHYH1 phytanoyl-CoA 2-hydroxylase 65.97(n)
    64.48(a)    		   426601  XM_424238.3  XP_424238.3 
    lizard
    (Anolis carolinensis)    		 Reptilia PHYH6
    		 --
    		 71(a)
    		 1 ↔ 1
    		 5(89977414-89989627)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.175482 Xenopus laevis transcribed sequence with weak similarity more 75.94(n)    BU899751.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii phyh1 phytanoyl-CoA 2-hydroxylase 68.17(n)
    69.07(a)    		   550521  NM_001017823.1  NP_001017823.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea ZK550.53
    CELE_ZK550.61    		 Protein ZK550.61 51(a)3
    62.12(n)1
    61.43(a)1    		   IV(17257748-17259527)3
    1785031  NM_070661.21  NP_503062.11 


    ENSEMBL Gene Tree for PHYH (if available)
    TreeFam Gene Tree for PHYH (if available) 

    Paralogs
    for PHYH gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for PHYH gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/552 NCBI SNPs in PHYH are shown (see all 552)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289381691,2
    		C,F,pathogenic48310829(-) CTCATC/TCCACT 3 P S int1 mis1 ese35Minor allele frequency- T:0.15CSA WA NA EU 6054
    rs289396721,2
    		Cpathogenic48320564(-) TGCACA/CAGGAC 4 K Q mis1 ese30--------
    rs1048941731,2
    		Cpathogenic48320648(-) ACAACA/GGCTGT 4 S G mis10--------
    rs1048941791,2
    		Cpathogenic48325366(-) GTCAGA/CATAAA 4 N H mis10--------
    rs1048941741,2
    		Cpathogenic48325385(-) ATTCCA/GGAAGG 4 Q R mis10--------
    rs5493751,2
    		H--13232411(-) gagcgT/Cggtgg 2 -- ds50014Minor allele frequency- C:0.00NS EA 420
    rs1998581791,2
    		C--13232993(-) AATGGA/GANNNN 2 -- ut310--------
    rs755662891,2
    		C,--13235216(+) CTTCAG/CAAGGC 2 -- int11Minor allele frequency- C:0.50WA 2
    rs761306691,2
    		F,--13235304(+) CTCAAG/ACTCCA 2 -- int11Minor allele frequency- A:0.06WA 118
    rs563209951,2
    		C--13235681(+) AAGTGC/TAAATG 2 -- int10--------

    HapMap Linkage Disequilibrium report for PHYH (13319796 - 13344412 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PHYH: --
    Human Gene Mutation Database (HGMD): PHYH

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PHYH
    DNA2.0 Custom Variant and Variant Library Synthesis for PHYH

    Disorders / Diseases
    for PHYH gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PHYH for disorders           About GeneDecksing

    OMIM gene information: 602026   
    OMIM disorders: 266500  
    UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832
  • Defects in PHYH are a cause of Refsum disease (RD) [MIM:266500]. RD is an autosomal recessive disorder
    • characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia,
    and elevated protein levels in the cerebrospinal fluid (CSF). Patients exhibit accumulation of the branched-chain
    fatty acid, phytanic acid, in blood and tissues. Less constant features are nerve deafness, anosmia, skeletal
    abnormalities, ichthyosis, cataracts and cardiac impairment. Manifestations of the disease appear in the second or
    third decade of life

    20/24 diseases for PHYH (see all 24):    About MalaCards
    rhizomelic chondrodysplasia punctata    refsum disease    chondrodysplasia punctata    chondrodysplasia
    zellweger syndrome    rhizomelic chondrodysplasia punctata type 2    aleutian mink disease    infantile refsum disease
    retinitis pigmentosa    b-cell lymphomas    anosmia    cerebellar ataxia
    peroxisomal disease    testicular infarct    peripheral neuropathy    lupus nephritis
    nephritis    adrenoleukodystrophy    ichthyosis    alzheimer's disease

    5 diseases from the University of Copenhagen DISEASES database for PHYH:
    Refsum disease     Lymphoma     Infantile refsum disease     Zellweger syndrome
    Retinitis pigmentosa

    7 Novoseek disease relationships for PHYH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    refsum disease 97.1 33 9326939 (3), 17956235 (2), 10951529 (2), 14974078 (2) (see all 19)
    chondrodysplasia punctata rhizomelic 83.2 1 9266377 (1)
    peroxisomal disorders 83 1 8341225 (1)
    retinitis pigmentosa 65 1 17905308 (1)
    lymphoma follicular 45.7 2 2179300 (1), 1689087 (1)
    lymphoma 3.86 1 2179300 (1)
    alzheimers disease 1.56 2 2251906 (1), 1685745 (1)

    GeneTests: PHYH
    Refsum Disease

    Human Genome Epidemiology (HuGE) Navigator: PHYH (3 documents)

    Export disorders for PHYH gene to outside databases

    Publications
    for PHYH gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PHYH gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with PHYH)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of PAHX, a Refsum disease gene. (PubMed id 9326939)1, 2, 3, 9 Mihalik S.J....Gould S.J. (1997)
    2. Roles of phytanoyl-CoA alpha-hydroxylase in mediating the expression of human coagulation factor VIII. (PubMed id 11574539)1, 7, 9 Chen C....Gu J. (2001)
    3. Molecular basis of Refsum disease: sequence variations in phytanoyl- CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (PubMed id 14974078)1, 2, 9 Jansen G.A.... Wanders R.J.A. (2004)
    4. Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. (PubMed id 16186124)1, 2, 9 McDonough M.A....Schofield C.J. (2005)
    5. Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. (PubMed id 10767344)1, 2, 9 Jansen G.A.... Wanders R.J.A. (2000)
    6. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. (PubMed id 9326940)1, 2, 9 Jansen G.A....Wanders R.J.A. (1997)
    7. Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (PubMed id 10709665)1, 2, 9 Jansen G.A.... Wanders R.J.A. (1999)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. (PubMed id 10686344)1, 2 Lee Z.H.... Kim K.K. (2000)
    10. Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein. (PubMed id 10051602)1, 2 Chambraud B....Baulieu E.-E. (1999)

    External Searches for PHYH gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PHYH gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5264 HGNC: 8940 AceView: PHYH Ensembl:ENSG00000107537 euGenes: HUgn5264
    ECgene: PHYH Kegg: 5264 H-InvDB: PHYH

    Other Databases showing PHYH gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PHYH gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PHYH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHYH

    Intellectual Property
    for PHYH gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PHYH gene:
    Search GeneIP for patents involving PHYH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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