EBP - EBP cholestenol delta-isomerase Gene

Homo sapiens

Also known as CPX; CHO2; CPXD; MEND; CDPX2

Gene ID: 10682 | Gene type: protein coding

About EBP

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,521,808-48,528,716 (from NCBI)

This gene has 6 transcripts (splice variants), 189 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in liver (RPKM 87.3), duodenum (RPKM 37.6) and 24 other tissues.

Summary

The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with Bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]

EBP Products(1)

mRNA	Protein	Name
NM_006579.3	NP_006570.1	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

EBP Protein Structure

EBP

0
100
200
230 a.a.

Protein Preferred Names

Protein Names

3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

3-beta-hydroxysteroid-delta-8,delta-7-isomerase

Related Diseases

Diseases

Alias

Mend Syndrome

Male Ebp Disorder With Neurological Defects	MEND
Male Ebp Disorder With Neurologic Defects

Chondrodysplasia Punctata 2, X-Linked Dominant

CDPX2	Happle Syndrome
Chondrodysplasia Punctata, X-Linked Dominant	Cdpxd
Cpxd	Conradi-Hunermann Syndrome
Conradi-Hunermann-Happle Syndrome	Chondrodysplasia Punctata 2 X-Linked Dominant
X-Linked Dominant Chondrodysplasia Punctata 2	Conrad Hunermann Happle Syndrome
Conradi Hunermann Syndrome	Chh
Chondrodysplasia Punctata, Type 2, X-Linked Dominant	Chondrodysplasia Punctata, X-Linked Dominant Type
Chondrodysplasia Punctata

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

Chondrodysplasia Punctata Syndrome

Chondrodysplasia Punctata	Chondrodysplasia Punctata Congenita
Toriello Higgins Miller Syndrome	Chondrodysplasia Punctata, Toriello Type
Toriello-Higgins-Miller Syndrome	Cdp
Chondrodysplasia Punctata, X-Linked Dominant Type	Chondrodysplasia Punctata Group
Dysplasia Punctata Epiphysis	Dysplasia Punctata
Dysplasia Epiphysealis Punctata	Chondrodystrophy Of Punctata

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

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

X-Linked Chondrodysplasia Punctata 1

Chondrodysplasia Punctata 1, X-Linked	Arylsulfatase E Deficiency
Chondrodystrophia Calcificans Congenita	Cdpx1
X-Linked Recessive Chondrodysplasia Punctata 1	Brachytelephalangic Chondrodysplasia Punctata

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

Toxicodendron Dermatitis

Dermatitis, Toxicodendron	Contact Dermatitis Due To Genus Toxicodendron
Rhus Dermatitis	Dermatitis Toxicodendron

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Facial Neuralgia

Skin Atrophy

Atrophic Condition Of Skin	Atrophoderma
Atrophy - Skin

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

Scoliosis

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

Approval

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0660	Eicosapentaenoic Acid	Activator	≥98.0%	Yes
HY-10466	Daclatasvir	Inhibitor	98.76%	Unkown
HY-10237	Boceprevir	Inhibitor	98.79%	Unkown
HY-10465	Daclatasvir dihydrochloride	Inhibitor	99.68%	Unkown
HY-W011269	Eicosapentaenoic Acid sodium	Activator	/	Unkown

Clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Phase
HY-132607	MTL-CEBPA		95.52%	Phase 2
HY-132607A	MTL-CEBPA sodium		94.63%	Phase 2
HY-132168	RMC-5552	Inhibitor	98.10%	Phase 1

Pre-clinical Phase

Bioactive Molecules (31)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N4103	Fucosterol	Inhibitor	≥98.0%	Unkown
HY-110188	BiP inducer X	Inhibitor	99.88%	Unkown
HY-N0704	Agrimol B		99.75%	Unkown
HY-128671	6-Thioinosine		98.82%	Unkown
HY-N0656A	(+)-Usnic acid		99.63%	Unkown
HY-N6954	Garcinone C		99.66%	Unkown
HY-114519	Helenalin acetate	Inhibitor	98.59%	Unkown
HY-134334	C/EBPα inducer 1	Activator	99.85%	Unkown
HY-134903	(32-Carbonyl)-RMC-5552	Inhibitor	95.04%	Unkown
HY-114267	Cbz-B3A	Inhibitor	≥98.0%	Unkown
HY-134333	ICCB280	Activator	99.43%	Unkown
HY-143510	RMC-4627		/	Unkown
HY-162351	EBP-IN-1		/	Unkown
HY-111370	mTOR inhibitor-2	Inhibitor	/	Unkown
HY-10237S	Boceprevir-d9	Inhibitor	/	Unkown
HY-10466S	Daclatasvir-d6	Inhibitor	/	Unkown
HY-10466S2	Daclatasvir-d16	Inhibitor	/	Unkown
HY-115869	RMC-4529	Inhibitor	/	Unkown
HY-130723	AMPK activator 2	Activator	/	Unkown
HY-149292	SR-4133	Inhibitor	/	Unkown
HY-157482	EBP-59	Inhibitor	/	Unkown
HY-N11507	Tibesaikosaponin V	Inhibitor	/	Unkown
HY-N4103R	Fucosterol (Standard)	Inhibitor	/	Unkown
HY-N7661	4β-Hydroxywithanolide E	Inhibitor	/	Unkown
HY-RS04130	EBP Human Pre-designed siRNA Set A		/	Unkown
HY-RS04277	EIF4EBP1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS04278	EIF4EBP2 Human Pre-designed siRNA Set A		/	Unkown
HY-RS04279	EIF4EBP3 Human Pre-designed siRNA Set A		/	Unkown
HY-W412264	Pim-1/2 kinase inhibitor 1	Inhibitor	99.90%	Unkown
HY-10466BS	Daclatasvir-d6 hydrochloride		/	Unkown
HY-130723A	AMPK activator 2 hydrochloride	Activator	99.65%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EBP	RGD	RGD:620957
Mus musculus	EBP	MGD	MGI:107822
Bos taurus	EBP	VGNC	VGNC:54880
Others	EBP	NCBI

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