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FLASH GENE
Symbol PHYH contributors: np/ - updated : 06-02-2006
HGNC name phytanoyl-CoA 2-hydroxylase
HGNC id 8940
Corresponding disease
RDPA Refsum disease, adult
Location 10p13      Physical location : 13.319.796 - 13.342.130
Synonym name
  • phytanoyl-CoA hydroxylase
  • phytanic acid oxidase
  • phytanoyl-CoA hydroxylase (Refsum disease)
  • Synonym symbol(s) PAHX, PH-1, LN1, LNAP1, RD
    EC.number 1.4.11.18
    DNA
    TYPE functioning gene
    STRUCTURE 22.33 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - D10S249 - D10S226 - PHYH - D10S223 - D10S466 - cen
    Physical map
    USP6NL 10p13 USP6 N-terminal like ECHDC3 10p14 enoyl Coenzyme A hydratase domain containing 3 C10orf47 10p14 chromosome 10 open reading frame 47 UPF2 10p14-p13 UPF2 regulator of nonsense transcripts homolog (yeast) DHTKD1 10p14 dehydrogenase E1 and transketolase domain containing 1 SEC61A2 10p14 dehydrogenase E1 and transketolase domain containing 1 NUDT5 10p14-p13 nudix (nucleoside diphosphate linked moiety X)-type motif 5 C10orf7 10p13 chromosome 10 open reading frame 7 CAMK1D 10p13 calcium/calmodulin-dependent protein kinase ID DKFZP761F241 10p14 hypothetical protein DKFZp761F241 LOC389939 10 similar to ribosomal protein L5 OPTN 10p14 optineurin MCM10 10p13 MCM10 minichromosome maintenance deficient 10 (S. cerevisiae) LOC221044 10p14 hypothetical protein BC018068 PHYH 10p15-p14 phytanoyl-CoA hydroxylase (Refsum disease) SEPHS1 10p14 selenophosphate synthetase 1 C10orf30 10p14 chromosome 10 open reading frame 30 PRPF18 10p12.33 PRP18 pre-mRNA processing factor 18 homolog (yeast) FLJ10210 C10orf45 10p14 chromosome 10 open reading frame 45 LOC283071 10p14 similar to hypothetical protein 9330140G23 HSP70-4 10p14 likely ortholog of mouse heat shock protein, 70 kDa 4 SUV39H2 10p13 suppressor of variegation 3-9 homolog 2 (Drosophila) DCLRE1C 10p14-p13 DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) LOC389940 10 similar to seven transmembrane helix receptor FLJ11106 10p13 hypothetical protein FLJ11106 LOC387634 10 similar to Acyl-CoA-binding protein (ACBP) (Diazepam binding inhibitor) (DBI) (Endozepine) (EP) MGC35468 10p13 hypothetical protein MGC35468 RPP38 10p13 ribonuclease P (38kD)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1620 38.5 338 - 2005 15930519
    8 splicing 1725 - 238 - 2005 15930519
    different 5' utr and multiple differences in the coding region
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a cleavable peroxisomal targeting signal type 2 (PTS2)
  • HOMOLOGY
    Homologene
    FAMILY
  • PhyH family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • phytanoyl-CoA hydroxylase
  • first step of alpha-oxydation pathway of phytanic acid to pristanic acid
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism organic acid
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • iron Fe2+
  • 2 oxogluterate
  • protein
  • FKBP4
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RDPA
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS