DHCR7 - 7-dehydrocholesterol reductase Gene

Also Known as SLOS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1717

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	References	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	References	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	References	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

DHCR7 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83647	DHCR7 Antibody	WB	Mouse

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

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-107420	AY 9944		99.67%	Unkown
HY-164561	TASIN-30		99.96%	Unkown
HY-Y0889	1-(2,3-Dichlorphenyl)piperazine		99.38%	Unkown
HY-Y0889A	1-(2,3-Dichlorphenyl)piperazine hydrochloride		99.98%	Unkown
HY-RS03727	DHCR7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-107420S	AY 9944-d8		/	Unkown
HY-RS17300	Dhcr7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23755	Dhcr7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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