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FLASH GENE
Symbol LSS contributors: mct - updated : 26-10-2018
HGNC name lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
HGNC id 6708
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
four PTFB repeats
HOMOLOGY
Homologene
FAMILY terpene cyclase/mutase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,endoplasmic reticulum
text
  • localized in the endoplasmic reticulum (ER)
    • basic FUNCTION
  • lanosterol synthase catalyzing cyclization of squalene-2,3-epoxide to lanosterol (biosynthesis of cholesterol, steroid hormones, and vitamin D)
  • catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus
  • is required to maintain self-renewal in primary erythroid progenitors
  • catalyzes the biosynthesis of squalene, the first specific intermediate in the cholesterol biosynthetic pathway
  • involved in cholesterol biosynthesis
  • key enzyme in the cholesterol biosynthetic pathway
  • plays an important role in the regulation of hair growth
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    repressed by HDAC3 (represses transcription from the lanosterol synthase promoter)
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCC8 , HTS6
    Susceptibility to mild essential hypertension
    Variant & Polymorphism other
  • rs2254524 polymorphisms influence both the salt sensitivity of blood pressure (BP) and changes in circulating endogenous ouabain (EO) in response to a low salt diet
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousdermatology 
    may facilitate the development of novel therapies for hair loss
    ANIMAL & CELL MODELS
  • plasma cholesterol-lowering and transient liver dysfunction in mice lacking squalene synthase in the liver