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FLASH GENE
Symbol DHCR24 contributors: mct/ - updated : 24-01-2020
HGNC name 24-dehydrocholesterol reductase
HGNC id 2859
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