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FLASH GENE
Symbol DHCR7 contributors: mct - updated : 22-01-2020
HGNC name 7-dehydrocholesterol reductase
HGNC id 2860
Corresponding disease
SLOS Smith-Lemli-Opitz syndrome
Location 11q13.4      Physical location : 71.145.458 - 71.159.477
Synonym name
  • putative sterol reductase SR-2
  • sterol delta-7-reductase
  • 7-DHC reductase
  • Synonym symbol(s) RSH, DHC7, D7SR
    EC.number 1.3.1.21
    DNA
    TYPE functioning gene
    STRUCTURE 14.02 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D11S922 - D11S1350 - D11S913 - DHCR7 - D11S916 - D11S901 - D11S1354 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2665 - 475 - 1998 9465114
    9 - 2642 - 475 - 1998 9465114
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrineadrenal gland   highly
    Nervousbrain    
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • nine transmembrane segments
  • a sterol sensing domain (SSD), organized into five membrane spanning domains (TM2-6)
  • one large cytoplasmic loop (the 4th cytoplasmic loop, 4L containing the putative active site, a NADPH-binding nicotinamide adenine dinucleotide phosphate, reduced form site)
  • a sterol reductase-like carboxy terminal domain
  • HOMOLOGY
    interspecies homolog to murine Dhcr7
    Homologene
    FAMILY
  • LBR superfamily
  • ERG4/ERG24 (ergosterol biosynthesis) family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    intracellular,nuclear envelope,int
    basic FUNCTION
  • removing the C7-8 double bound in 7-dehydrocholesterol
  • in a neuronal cell line, DHCR7 is likely a potent regulator of lipid biosynthesis
  • 7-DHC oxidative metabolites are critical contributors to altered neural development in SLOS
  • DHCR7 is an important regulatory switch between cholesterol and vitamin D synthesis
  • is a terminal enzyme of cholesterol synthesis, and is essential for embryonic development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    catalyzing the ultimate step of cholesterol biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DHCR7 activity is independent of cytochrome P450 reductase
  • DHCR7 is important for both cholesterol and vitamin D synthesis, and its activity is controlled by DHCR24
  • DHCR7 plays a role in growth of the palatal shelf and can regulate palatogenesis through alterations in the levels of SHH and BMP2
  • phosphorylation modulates DHCR7 activity in cells, and contributes to the overall synthesis of cholesterol, and probably vitamin D
  • cell & other
    REGULATION
    Other phosphorylation plays a role in controlling DHCR7 activity, which may provide a means to divert flux from cholesterol synthesis to vitamin D production
    ASSOCIATED DISORDERS
    corresponding disease(s) SLOS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
  • cholesterol metabolic aberrations, induced through disruption of either DHCR7 or INSIG1 and INSIG2 , result in osteoblast differentiation abnormalities
  • Susceptibility
  • to vitamin D deficiency in Uygur and Kazak ethnic populations
  • to increased risk of thyroid cancer
  • to rheumatoid arthritis (RA)
  • Variant & Polymorphism SNP
  • DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations
  • DHCR7 polymorphisms may be associated with an increased risk of thyroid cancer due to an effect of this gene on circulating vitamin D levels
  • SNPs in the DHCR7/NADSYN1 locus showed evidence of positive association with RA, rs4944076
  • Candidate gene
    Marker
    Therapy target statins increases DHCR7 expression in SLOS (if any residual activity is present)
    SystemTypeDisorderPubmed
    metabolismlipid 
    statins increases DHCR7 expression in SLOS (if any residual activity is present)
    ANIMAL & CELL MODELS
    murine modele of SLOS