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FLASH GENE
Symbol HSD17B3 contributors: npt/ - updated : 30-09-2005
HGNC name hydroxysteroid (17-beta) dehydrogenase 3
HGNC id 5212
Corresponding disease
HSD17B3D 17-@beta hydroxysteroid dehydrogenase III deficiency
Location 9q22.3      Physical location : 98.997.588 - 99.064.434
Synonym name
  • short chain dehydrogenase/reductase family 12C, member 2
  • testicular 17-beta-hydroxysteroid dehydrogenase
  • 17-beta-HSD 3
  • Synonym symbol(s) EDH17B3, SDR12C2, 17-beta-HSD3
    EC.number 1.1.1.62, 1.1.1.64
    DNA
    TYPE functioning gene
    STRUCTURE 66.85 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map see NBCCS
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1134 34.4 310 - Persson (2009)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
    Nervousbrain   moderately
    Reproductivemale systemtestis  predominantly
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Hsd17b3
    ortholog to rattus Hsd17b3
    Homologene
    FAMILY
  • short-chain dehydrogenases/reductases (SDR) family
  • 17-beta-HSD 3 subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • playing an essential role in the formation of active intracellular sex steroids
  • catalyzing the conversion of androstenedione to testosterone (last step of testosterone biosynthesis)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text sex determination
    PATHWAY
    metabolism lipid/lipoprotein , hormone
    signaling
    steroid biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • NADPH
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HSD17B3D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS