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FLASH GENE

Symbol

DHCR24

contributors: mct/ - updated : 24-01-2020

HGNC name	24-dehydrocholesterol reductase
HGNC id	2859

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014762 9 - 4286 NP_055577 - 516 - 2014 27919032

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       lowly Digestive intestine           liver         Endocrine adrenal gland       highly Nervous brain forebrain cerebral cortex   highly Homo sapiens Reproductive female system ovary     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Epithelial secretory glandular endocrine   Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed neurology neurodegenerative alzheimer pharmacological enhancement of its activity may be a novel Abeta-lowering approach for the treatment of Alzheimer disease

ANIMAL & CELL MODELS