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FLASH GENE
Symbol AKR1C4 contributors: mct - updated : 16-10-2018
HGNC name aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)
HGNC id 387
Corresponding disease
SRXY8 46XY sex reversal 8
Location 10p15.1      Physical location : 5.238.797 - 5.260.910
Synonym name
  • dihydrodiol dehydrogenase 4
  • chlordecame reductase
    • Synonym symbol(s) DDH4, HAKRA, CDR, CHDR, 3-alpha-HSD, C11, DD-4
    EC.number 1.1.1.357, 1.1.1.213, 1.1.1.225
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 22.11 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1192 - 323 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   specific
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer monomer
    HOMOLOGY
    Homologene
    FAMILY aldoketo-reductase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • chlordecone reductase (3-alpha hydroxysteroid dehydrogenase, type I), catalyzing the detoxification of organochloride pesticids
  • AKR1C2, AKR1C4, are involved in the metabolism of steroids and other carbonyl compounds including drugs
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism drug , lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by long-chain fatty acids that inhibit AKR1C1, AKR1C2, AKR1C4
    ASSOCIATED DISORDERS
    corresponding disease(s) SRXY8
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    are responsible for sexual development dysgenesis
    Susceptibility to paranoid ideation during mania or hypomania in bipolar disorder
    Variant & Polymorphism SNP reduced the risk of exhibiting paranoia in bipolar disorder
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS