Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol LSS contributors: mct - updated : 26-10-2018
HGNC name lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
HGNC id 6708
Corresponding disease
ARCC8 congenital cataract, autosomal recessive 8
HTS6 hereditary hypotrichosis simplex 6
Location 21q22.3      Physical location : 47.608.360 - 47.648.738
Synonym name
  • 2,3-epoxysqualene--lanosterol cyclase
  • oxidosqualene cyclase
  • Synonym symbol(s) OSC
    EC.number 5.4.99.7
    DNA
    TYPE functioning gene
    STRUCTURE 40.38 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map cen - COL18A1 - SLC19A1 - D21S91 - D21S544 - D21S112 - COL6A1 - LSS - COL6A2 - PCNT2 - D21S1446 - S100B - D21S1575 - HRMT1L1
    Authors Lapenta (98)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 4258 - 732 - 2015 26200341
  • also termed oxidosqualene cyclase
  • 23 - 2692 - 732 - 2015 26200341
    22 - 4225 - 721 - 2015 26200341
    21 - 4390 - 652 - 2015 26200341
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    Reproductivemale systemprostate  highly
     male systemtestis  highly
    Skin/Tegumentskin appendageshairsheath predominantly Homo sapiens
     skin appendagesskin glandsebaceous gland   Homo sapiens
     skin appendagesskin glandsweat gland   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumenthair follicle cell Homo sapiens
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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