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FLASH GENE
Symbol DHCR24 contributors: mct/ - updated : 24-01-2020
HGNC name 24-dehydrocholesterol reductase
HGNC id 2859
Corresponding disease
DSMS desmosterolosis
Location 1p32.3      Physical location : 55.315.299 - 55.352.921
Synonym name
  • seladin (SELective Alzheimer's Disease INdicator-1) 1
  • 3 beta-hydroxysterol delta 24 reductase
  • diminuto/dwarf1 homolog
  • desmosterol-to-cholesterol enzyme
    • Synonym symbol(s) KIAA0018, SELAD1, SELADIN1, DCE, Nbla03646, seladin-1
    EC.number 1.3.1.72
    DNA
    TYPE functioning gene
    STRUCTURE 37.62 kb     9 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • presence of several CACCC-boxes in the DHCR24 proximal promoter
  • transcription of DHCR24 is initiated from a single CpG-rich promoter that is regulated by DNA methylation in some cell types
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 4286 - 516 - 2014 27919032
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveintestine    
     liver    
    Endocrineadrenal gland   highly
    Nervousbrainforebraincerebral cortex highlyHomo sapiens
    Reproductivefemale systemovary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Epithelialsecretoryglandularendocrine 
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text liver lowly, placenta, stem cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal TM domain is essential for the ER membrane targeting of DHCR24
  • FAD binding domain
  • leader sequence
  • four possible transmembrane sequences
  • an oxidoreductase domain
    • HOMOLOGY
    interspecies homolog to C.elegans diminuto/DWARF1
    homolog to murine Dhcr24
    homolog to rattus LOC298298
    Homologene
    FAMILY
  • FAD-binding oxidoreductase/transferase type 4 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    intracellular,nuclear envelope
    text
  • concentrated in the nucleus after oxidative challenge
  • expressed in ER and nuclear envelope
    • basic FUNCTION
  • catalyzing the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis
  • acting as an antiapoptotic factor in neurons
  • playing a role in protection of cells against amyloid beta peptide toxicity and oxidative stress
  • might be involved in the molecular events of adrenocortical tumorigenesis by facilitating steroid synthesis and cell growth
  • being a key mediator of Ras-induced senescence
  • regulates responses to oncogenic and oxidative stimuli
  • flavin adenine dinucleotide-dependent oxidoreductase regulating responses to oncogenic and oxidative stimuli
  • playing a role in cholesterol biosynthesis, APP processing and Abeta generation
  • exerts an anti-apoptotic function as a reactive oxygen species (ROS) scavenger, for which it needs its FAD-binding domain
  • anti-apoptotic function of DHCR24 is likely associated with its cleavage by caspase
  • involved in cell growth, senescence and cellular response to oncogenic and oxidative stress
  • endoplasmic reticulum (ER)-localized multifunctional enzyme that possesses anti-apoptotic and cholesterol-synthesizing activitie
  • could protect neuronal cells from apoptosis induced by ER stress
  • DHCR24 associates strongly with the endoplasmic reticulum beyond predicted membrane domains: implications for the activities of this multi-functional enzyme
  • converts desmosterol into cholesterol
    • CELLULAR PROCESS cell life, antiapoptosis
    cell life, senescence
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    cholesterol biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • FAD
    • protein
  • binding to TP53, displacing E3 ubiquitin ligase resulting in TP53 accumulation
  • binding independently to E3 ubiquitin ligase
  • role of KLF5 (Krüppel-like factor 5) in androgen-regulated DHCR24 expression
  • REST binds likely to the human DHCR24 promoter in the vicinity of the predicted human repressor element 1 (RE1) sequence
  • DHCR7 is important for both cholesterol and vitamin D synthesis, and its activity is controlled by DHCR24
  • APOM induces inhibition of inflammatory responses via the S1PR1 and DHCR24 pathways
  • MARCH6, known to control earlier rate-limiting steps in cholesterol synthesis, also controls levels of lanosterol 14alpha-demethylase (LDM) and the terminal cholesterol synthesis enzyme, 24-dehydrocholesterol reductase (DHCR24)
    • cell & other
    REGULATION
    induced by thyroid hormone that up-regulates DHCR24 gene expression at the transcriptional level and NR1H3 maintains the gene expression
    Other modulated by the ACTH/cAMP-driven pathway
    signaling regulates activity of DHCR24, the final enzyme in cholesterol synthesis
    ASSOCIATED DISORDERS
    corresponding disease(s) DSMS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in brain region affected by Alzheimer disease (AD)
    tumoral     --over  
    overexpressed in adrenocortical adenomas and adrenal cancer cells
    constitutional somatic mutation      
    missense mutations in desmosterolosis
    tumoral     --over  
    in mucinous cystadenocarcinomas and serous cystadenocarcinomas of the ovary
    Susceptibility Alzheimer's disease
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    pharmacological enhancement of its activity may be a novel Abeta-lowering approach for the treatment of Alzheimer disease
    ANIMAL & CELL MODELS