Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
    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