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FLASH GENE

Symbol

DHCR7

contributors: mct - updated : 22-01-2020

HGNC name	7-dehydrocholesterol reductase
HGNC id	2860

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001360 9 - 2665 NP_001351 - 475 - 1998 9465114 NM_001163817 9 - 2642 NP_001157289 - 475 - 1998 9465114

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 Digestive liver         Endocrine adrenal gland       highly Nervous brain         Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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)
	System Type Disorder Pubmed metabolism lipid   statins increases DHCR7 expression in SLOS (if any residual activity is present)

ANIMAL & CELL MODELS

murine modele of SLOS