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FLASH GENE
Symbol PEX12 contributors: - updated : 17-08-2007
HGNC name peroxisomal biogenesis factor 12
HGNC id 8854
Corresponding disease
PBD6 peroxisome biogenesis disorder 6, Zellweger spectrum
Location 17q12-q21.1      Physical location : 33.901.814 - 33.905.656
Synonym name
  • peroxin 12
  • Synonym symbol(s) HGNC8854
    DNA
    TYPE functioning gene
    STRUCTURE 3.00 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   predominantly
    Digestiveintestinesmall intestine  highly
    Lymphoid/Immunespleen   moderately
    Nervousbrain   moderately
    Reproductivemale systemtestis  specific
    Skin/Tegumentskin   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two transmembrane segments
  • a cytoplasm N terminal region required for localization to peroxisomes
  • C-terminal region contains an atypical C3HC4 RING zinc finger domain essential for peroxisome function, important for its interaction with PEX5, the import receptor for PTS1-containing proteins, as well as PEX10 and PEX19
  • HOMOLOGY
    interspecies ortholog to chimpanzee pex12
    ortholog to rattus Pex12
    ortholog to murine Pex12
    ortholog to chicken pex12
    Homologene
    FAMILY
  • peroxin 12 family
  • CATEGORY structural protein , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • involved in matrix protein import into peroxisomes
  • acting as an ubiquitin-protein ligase
  • CELLULAR PROCESS protein, ubiquitin dependent proteolysis
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • component with PEX10 of a peroxisomal membrane complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PEX5
  • PEX10
  • PEX19 via its cytoplasmic domain
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PBD6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS