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 reticulu... See more...

Aliases for EBP Gene

Aliases for EBP Gene

  • EBP Cholestenol Delta-Isomerase 2 3 5
  • Chondrodysplasia Punctata-2, X-Linked Dominant (Happle Syndrome) 2 3
  • 3-Beta-Hydroxysteroid-Delta(8),Delta(7)-Isomerase 3 4
  • 3-Beta-Hydroxysteroid-Delta-8,Delta-7-Isomerase 2 3
  • Emopamil Binding Protein (Sterol Isomerase) 2 3
  • Delta(8)-Delta(7) Sterol Isomerase 3 4
  • Cholestenol Delta-Isomerase 3 4
  • Emopamil-Binding Protein 3 4
  • D8-D7 Sterol Isomerase 3 4
  • Sterol 8-Isomerase 2 3
  • CHO2 2 3
  • CPXD 2 3
  • CPX 2 3
  • Emopamil-Binding Protein (Sterol Isomerase) 2
  • EC 4
  • CDPX2 3
  • MEND 3
  • EBP 5

External Ids for EBP Gene

Previous HGNC Symbols for EBP Gene

  • CDPX2

Previous GeneCards Identifiers for EBP Gene

  • GC0XP047183
  • GC0XP046640
  • GC0XP047427
  • GC0XP047428
  • GC0XP048136
  • GC0XP048264
  • GC0XP048380
  • GC0XP046043

Summaries for EBP Gene

Entrez Gene Summary for EBP Gene

  • 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]

GeneCards Summary for EBP Gene

EBP (EBP Cholestenol Delta-Isomerase) is a Protein Coding gene. Diseases associated with EBP include Chondrodysplasia Punctata 2, X-Linked Dominant and Mend Syndrome. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and steroid delta-isomerase activity. An important paralog of this gene is ENSG00000286268.

UniProtKB/Swiss-Prot Summary for EBP Gene

  • Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EBP Gene

Genomics for EBP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EBP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EBP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EBP

Top Transcription factor binding sites by QIAGEN in the EBP gene promoter:
  • C/EBPalpha
  • CREB
  • GATA-6
  • Nkx2-5
  • p53
  • Pax-4a
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for EBP Gene

Latest Assembly
6,918 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
6,909 bases
Plus strand

(GRCh37/hg19 by Ensembl)
7,559 bases
Plus strand

Genomic View for EBP Gene

Genes around EBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EBP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EBP Gene

Proteins for EBP Gene

  • Protein details for EBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q6FGL3
    • Q6IBI9

    Protein attributes for EBP Gene

    230 amino acids
    Molecular mass:
    26353 Da
    Quaternary structure:
    No Data Available
    • Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug.

    Three dimensional structures from OCA and Proteopedia for EBP Gene

neXtProt entry for EBP Gene

Post-translational modifications for EBP Gene

  • Glycosylation at Thr2 and Thr3
  • Modification sites at PhosphoSitePlus

Other Protein References for EBP Gene

No data available for DME Specific Peptides for EBP Gene

Domains & Families for EBP Gene

Gene Families for EBP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for EBP Gene

  • Emopamil-binding

Suggested Antigen Peptide Sequences for EBP Gene

GenScript: Design optimal peptide antigens:
  • Emopamil-binding protein (EBP_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the EBP family.
  • Belongs to the EBP family.
genes like me logo Genes that share domains with EBP: view

Function for EBP Gene

Molecular function for EBP Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-cholest-7-en-3beta-ol = 5alpha-cholest-8-en-3beta-ol; Xref=Rhea:RHEA:15281, ChEBI:CHEBI:16608, ChEBI:CHEBI:17168; EC=; Evidence={ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-cholesta-8,24-dien-3beta-ol = 5alpha-cholesta-7,24-dien-3beta-ol; Xref=Rhea:RHEA:33999, ChEBI:CHEBI:16290, ChEBI:CHEBI:18252; Evidence={ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009};.
GENATLAS Biochemistry:
3 hydroxysteroid-delta 8-delta 7-isomerase beta ,cholesterol biosynthesis pathway, homodimerizing in the endoplasmic reticulum,converting cholesterol 8(9)-en 3 beta to bathosterol (cholest-7en-3 beta-ol),also binding emopamil,lamoxifen

Enzyme Numbers (IUBMB) for EBP Gene

Gene Ontology (GO) - Molecular Function for EBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000247 C-8 sterol isomerase activity IBA,ISS --
GO:0004769 steroid delta-isomerase activity IBA,IDA 9894009
GO:0004888 transmembrane signaling receptor activity TAS 7706302
GO:0005515 protein binding IPI 25910212
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with EBP: view
genes like me logo Genes that share phenotypes with EBP: view

Human Phenotype Ontology for EBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for EBP Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EBP

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for EBP Gene

Localization for EBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for EBP Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein. Nucleus envelope. Cytoplasmic vesicle. Note=During interphase, detected on the endoplasmic reticulum and the nuclear envelope. During mitosis, detected on cytoplasmic vesicles. {ECO:0000269 PubMed:10406945}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EBP gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA,IDA 10406945
GO:0005783 endoplasmic reticulum IDA 10406945
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 7706302
genes like me logo Genes that share ontologies with EBP: view

Pathways & Interactions for EBP Gene

genes like me logo Genes that share pathways with EBP: view

UniProtKB/Swiss-Prot Q15125-EBP_HUMAN

  • Pathway: Steroid biosynthesis; cholesterol biosynthesis.

Gene Ontology (GO) - Biological Process for EBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 10391219
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process IBA,IDA 9894009
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with EBP: view

No data available for SIGNOR curated interactions for EBP Gene

Drugs & Compounds for EBP Gene

(6) Drugs for EBP Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tamoxifen Approved Pharma Target, inhibitor TGF-β modulatory and PKC inhibitory effects, ER antagonist, Anti-Estrogens 466
Calcium Nutra 6876

(11) Additional Compounds for EBP Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Cholestenol
  • Zymostenol
  • (3beta,5alpha)Cholestenol
  • 3beta-Hydroxy-8(9)-cholestene
  • 3beta-Hydroxycholest-8(9)-ene
  • 24-Methylene lophenol
  • 4-alpha-Methyl-5-alpha-ergosta-7,24-dien-3-beta-ol
  • 4-a-Methyl-5-a-ergosta-7,24-dien-3-b-ol
  • 4-Α-methyl-5-α-ergosta-7,24-dien-3-β-ol
  • (3beta,4alpha,5alpha)- 4-Methyl-ergosta-7,24(28)-dien-3-ol
  • 4alpha-Methylfecosterol
  • 4 alpha-Methyl-5 alpha-ergosta-8,24(28)-dien-3 beta-ol
  • 4a-Methylfecosterol
  • 4Α-methylfecosterol
  • (3beta,4alpha,5alpha)-4-Methylergosta-8,24(28)-dien-3-ol
  • (3beta,5alpha)-Cholesta-7,24-dien-3-ol
  • Cholesta-7,24-dien-3-ol
  • (3b,5a)-Cholesta-7,24-dien-3-ol
  • (3β,5α)-Cholesta-7,24-dien-3-ol
  • 5a-Cholesta-7,24-dien-3b-ol
  • gamma-Cholesterol
  • 5alpha-Cholest-7-en-3beta-ol
  • g-Cholesterol
  • Γ-cholesterol
  • 5a-Cholest-7-en-3b-ol
genes like me logo Genes that share compounds with EBP: view

Transcripts for EBP Gene

mRNA/cDNA for EBP Gene

9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EBP

Alternative Splicing Database (ASD) splice patterns (SP) for EBP Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - -
SP2: - - -
SP3: - -

Relevant External Links for EBP Gene

GeneLoc Exon Structure for

Expression for EBP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EBP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EBP Gene

This gene is overexpressed in Liver (x7.1) and Adrenal Gland (x4.9).

Protein differential expression in normal tissues from HIPED for EBP Gene

This gene is overexpressed in Gallbladder (9.2), Adrenal (8.1), Fetal testis (7.5), Nasal epithelium (6.9), and Liver (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EBP Gene

Protein tissue co-expression partners for EBP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EBP

SOURCE GeneReport for Unigene cluster for EBP Gene:


Evidence on tissue expression from TISSUES for EBP Gene

  • Liver(4.6)
  • Nervous system(2.6)
  • Skin(2.4)
  • Kidney(2.2)
  • Adrenal gland(2.2)
  • Blood(2.1)
  • Muscle(2.1)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EBP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • bronchus
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • trachea
  • kidney
  • pelvis
  • placenta
  • testicle
  • ureter
  • uterus
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with EBP: view

No data available for mRNA Expression by UniProt/SwissProt for EBP Gene

Orthologs for EBP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EBP Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia EBP 30
  • 88.74 (n)
-- 31
  • 86 (a)
-- 31
  • 84 (a)
(Bos Taurus)
Mammalia EBP 30 31
  • 86.67 (n)
(Rattus norvegicus)
Mammalia Ebp 30
  • 81.89 (n)
(Mus musculus)
Mammalia Ebp 30 17 31
  • 80.67 (n)
(Monodelphis domestica)
Mammalia EBP 31
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia EBP 31
  • 51 (a)
(Anolis carolinensis)
Reptilia EBP 31
  • 63 (a)
African clawed frog
(Xenopus laevis)
Amphibia ebp-prov 30
(Danio rerio)
Actinopterygii ebp 30 31
  • 60.98 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons HYD1 30
  • 45.16 (n)
(Oryza sativa)
Liliopsida Os01g0103600 30
  • 48.81 (n)
Species where no ortholog for EBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for EBP Gene

Gene Tree for EBP (if available)
Gene Tree for EBP (if available)
Evolutionary constrained regions (ECRs) for EBP: view image

Paralogs for EBP Gene

Paralogs for EBP Gene

(1) SIMAP similar genes for EBP Gene using alignment to 3 proteins:

  • C9J719_HUMAN
  • C9JJ78_HUMAN
genes like me logo Genes that share paralogs with EBP: view

Variants for EBP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EBP Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
853595 Uncertain Significance: not provided 48,528,302(+) G/A
NM_006579.3(EBP):c.538G>A (p.Gly180Ser)
988320 Pathogenic: not provided 48,527,285(+) G/A
NM_006579.3(EBP):c.469G>A (p.Gly157Ser)
989351 Pathogenic: Chondrodysplasia punctata 2 X-linked dominant 48,523,974(+) G/A
NM_006579.3(EBP):c.203G>A (p.Trp68Ter)
rs104894792 Pathogenic: Chondrodysplasia punctata 2 X-linked dominant 48,527,202(+) G/A
NM_006579.3(EBP):c.386G>A (p.Trp129Ter)
rs104894793 Pathogenic: Chondrodysplasia punctata 2 X-linked dominant 48,528,287(+) C/T
NM_006579.3(EBP):c.523C>T (p.Gln175Ter)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EBP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EBP Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
nsv528292 CNV gain 19592680

Variation tolerance for EBP Gene

Residual Variation Intolerance Score: 82.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EBP Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EBP Gene

Disorders for EBP Gene

MalaCards: The human disease database

(17) MalaCards diseases for EBP Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search EBP in MalaCards View complete list of genes associated with diseases


  • Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues. {ECO:0000269 PubMed:10391218, ECO:0000269 PubMed:10391219, ECO:0000269 PubMed:10942423, ECO:0000269 PubMed:11493318, ECO:0000269 PubMed:18176751, ECO:0000269 PubMed:25814754}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • MEND syndrome (MEND) [MIM:300960]: An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. {ECO:0000269 PubMed:12503101, ECO:0000269 PubMed:20949533, ECO:0000269 PubMed:24459067, ECO:0000269 PubMed:24700572}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for EBP

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with EBP: view

No data available for Genatlas for EBP Gene

Publications for EBP Gene

  1. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. (PMID: 10391218) Derry JM … Herman GE (Nature genetics 1999) 3 4 23 74
  2. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. (PMID: 12760743) Moebius FF … Glossmann H (The Biochemical journal 2003) 3 4 23
  3. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. (PMID: 12503101) Milunsky JM … Metzenberg AB (American journal of medical genetics. Part A 2003) 4 23 74
  4. Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome. (PMID: 11493318) Becker K … Kárpáti S (Experimental dermatology 2001) 3 4 23
  5. The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. (PMID: 10942423) Has C … Traupe H (Human molecular genetics 2000) 3 4 23

Products for EBP Gene

Sources for EBP Gene