DHCR7 - 7-dehydrocholesterol reductase Gene

Homo sapiens

Also known as SLOS

Gene ID: 1717 | Gene type: protein coding

About DHCR7

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:71,434,411-71,448,393 (from NCBI)

This gene has 20 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 39.9), adrenal (RPKM 35.8) and 24 other tissues.

Summary

This gene encodes an Enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to Cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum Cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

DHCR7 Products(2)

mRNA	Protein	Name
NM_001163817.2	NP_001157289.1	7-dehydrocholesterol reductase
NM_001360.3	NP_001351.2	7-dehydrocholesterol reductase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 7-dehydrocholesterol reductase activity	EXP EXP: Inferred from Experiment	9465114	GOA
enables 7-dehydrocholesterol reductase activity	IDA IDA: Inferred from direct assay	9465114	GOA
enables 7-dehydrocholesterol reductase activity	IMP IMP: Inferred from mutant phenotype	38297129	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25637936	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cholesterol biosynthetic process	IMP IMP: Inferred from mutant phenotype	9465114	GOA
involved in cholesterol biosynthetic process via lathosterol	IMP IMP: Inferred from mutant phenotype	38297129	GOA
involved in positive regulation of ferroptosis	IMP IMP: Inferred from mutant phenotype	38297129	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	9878250	GOA
located in nuclear outer membrane	IDA IDA: Inferred from direct assay	9878250	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DHCR7 Protein Structure

ERG4_ERG24

0
100
200
300
400
475 a.a.

Protein Preferred Names

Protein Names

7-dehydrocholesterol reductase

7-DHC reductase

Related Diseases

Diseases

Alias

Smith-Lemli-Opitz Syndrome

SLOS	Rsh Syndrome
7-Dehydrocholesterol Reductase Deficiency	Slo Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome	Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung	Smith-Opitz-Inborn Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung	Smith Lemli Opitz Syndrome
Smith-Lemli-Opitz Syndrome, Type Ii

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Wiedemann-Steiner Syndrome

WDSTS	Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome	Wiedemann Grosse Dibbern Syndrome
Kmt2a-Related Neurodevelopmental Disorder	Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay
Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay	Wss
Growth Deficiency And Mental Retardation With Facial Dysmorphism

Holoprosencephaly

Holoprosencephaly Sequence	Hpe
Hpe - [Holoprosencephaly]

Hepatoblastoma

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

Child Syndrome	Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs
Child Nevus	Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects
Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects	Ichthyosis, Child Syndrome
Child Syndrome Ichthyosis	CHILD

Holoprosencephaly 11

HPE11	Holoprosencephaly-11
Holoprosencephaly, Type 11

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

X-Linked Chondrodysplasia Punctata 2

Happle Syndrome	Cdpx2
Conradi-Hünermann Syndrome	Chondrodysplasia Punctata 2, X-Linked
X-Linked Dominant Chondrodysplasia Punctata	Conradi-Hunermann Syndrome
Conradi-Hünermann-Happle Syndrome	Cdpxd
Cpxd	Chondrodystrophia Calcificans Congenita
Conradi-Hunermann-Happle Syndrome	X-Linked Chondrodysplasia Punctata Type 2
Chondrodysplasia Punctata, X-Linked Dominant Type

Hypospadias

Hypospadias Familial

Familial Hypospadias

Greenberg Dysplasia

Hem Dysplasia	Greenberg Skeletal Dysplasia
Hem Skeletal Dysplasia	GRBGD
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia	Moth-Eaten Skeletal Dysplasia
Chondrodystrophy, Hydropic And Prenatally Lethal Type	Hydrops-Ectopic Calcification-Motheaten Syndrome
Skeletal Dysplasia, Greenberg Type	Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia	Hem
Hem/Greenberg Dysplasia	Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia

Ck Syndrome

CKS	X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome
Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation

Germinoma

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

Hypertrophic Pyloric Stenosis

Congenital Hypertrophic Pyloric Stenosis	Pyloric Stenosis, Hypertrophic
Congenital Or Infantile Stricture Of Pylorus	Achalasia Of The Pylorus
Congenital Hypertrophy Of The Pylorus	Infantile Hypertrophy Of The Pylorus
Infantile Constriction Of The Pylorus	Congenital Stenosis Of The Pylorus
Congenital Constriction Of The Pylorus	Congenital Stricture Of The Pylorus
Infantile Hypertrophic Pyloric Stenosis	Infantile Stenosis Of The Pylorus
Infantile Stricture Of The Pylorus	Congenital Or Infantile Constriction Of Pylorus
Infantile Pyloric Obstruction	Infantile Pyloric Hypertrophy
Pylorus Achalasia	Pyloric Constriction
Infantile Pyloric Stricture	Infantile Pyloric Stenosis
Congenital Spasm Of Pylorus	Congenital Pylorospasm
Congenital Pyloric Stricture	Congenital Pyloric Spasm
Congenital Or Infantile Spasm Of Pylorus	Congenital Or Infantile Obstruction Of Pylorus
Congenital Pyloric Stenosis

Synostosis

Pallister-Hall Syndrome

PHS	Hypothalamic Hamartomas
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly	Hypothalamic Hamartoblastoma Syndrome
Hamartoma Of The Hypothalamus	Pallister Hall Syndrome
Hall-Pallister Syndrome	Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
Hamartoma, Hypothalamic

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Lipid Metabolism Disorder

Dyslipidemia	Disorder Of Fatty Acid Metabolism
Lipid Metabolism Disorders	Fatty Acid Metabolism Disorder
Disorder Of Lipid Metabolism	Abnormality Of Lipid Metabolism
Lipid Metabolism, Inborn Errors	Dyslipidemias
Disorders Of Lipid Metabolism	Congenital Disorders Of Lipid Metabolism
Inherited Disorders Of Lipid Metabolism

Chromosomal Duplication Syndrome

Orofacial Cleft

Cleft, Orofacial

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-107420	AY 9944	Inhibitor	99.71%	Unkown
HY-164561	TASIN-30	Inhibitor	98.43%	Unkown
HY-RS03727	DHCR7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-Y0889	1-(2,3-Dichlorphenyl)piperazine		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DHCR7	MGD	MGI:1298378
Canis familiaris	DHCR7	VGNC	VGNC:39927
Rattus norvegicus	DHCR7	RGD	RGD:621769
Bos taurus	DHCR7	VGNC	VGNC:28034
Felis catus	DHCR7	VGNC	VGNC:82009
Macaca mulatta	DHCR7	VGNC	VGNC:97758
Others	DHCR7	NCBI

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