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FLASH GENE
Symbol NSDHL contributors: mct - updated : 12-01-2011
HGNC name NAD(P) dependent steroid dehydrogenase-like
HGNC id 13398
Corresponding disease
CHILD congenital hemidysplasia with ichthyosiform erythroderma and lim defects
CKS CK syndrome
Location Xq28      Physical location : 151.999.510 - 152.037.907
Synonym name
  • 3 beta-hydroxysteroid dehydrogenase
  • hydroxysteroid 3-beta-delta8-delta7-dehydrogenase
  • sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
  • protein H105e3
  • short chain dehydrogenase/reductase family 31E, member 1
  • Synonym symbol(s) H105E3, XAP104, HSD3B3, SDR31E1
    EC.number 1.1.1.170
    DNA
    TYPE functioning gene
    STRUCTURE 38.40 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map see MAGEA@
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1581 41 373 - 1999 10369263
    9 - 1648 - 373 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • 3-beta-HSD family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • dual localization of NSDHL within ER membranes and on the surface of lipid droplets may provide another mechanism for regulation of the levels and sites of accumulation of intracellular cholesterol
  • basic FUNCTION
  • 3beta-hydroxysterol dehydrogenase thought to function in the demethylation of sterol precursors in one of the later steps of cholesterol biosynthesis
  • C4 demethylase involved in postsqualene cholesterol biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHILD , CKS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    mutated in mouse bare patched and striated