EBP (Emopamil Binding Protein) Gene
Key regulator of cholesterol biosynthesis and X-linked genetic disorders
Gene Information Card
| Symbol | EBP |
|---|---|
| Full Name | Emopamil Binding Protein (sterol isomerase) |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 10682 ncbi.nlm.nih.gov/gene/10682 |
| Ensembl ID | ENSG00000147119 |
| UniProt ID | Q15125 |
| OMIM ID | 300205 |
| HGNC ID | 3133 |
| Aliases | CPX, CDPX2, MEND, CHO2, CPXD |
Description
The EBP gene encodes 3β-hydroxysteroid-Δ8,Δ7-isomerase, an enzyme localized to the endoplasmic reticulum that catalyzes the conversion of Δ8-sterols to Δ7-sterols in the cholesterol biosynthesis pathway. Mutations in EBP cause X-linked dominant disorders including Conradi-Hünermann-Happle syndrome (CDPX2) and MEND syndrome (male EBP disorder with neurologic defects).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Conradi-Hünermann-Happle syndrome (CDPX2) | Loss-of-function mutations in EBP disrupt cholesterol biosynthesis, leading to accumulation of toxic sterol intermediates and abnormal skeletal/ectodermal development. | OMIM #302960 |
| MEND syndrome | Hemizygous EBP mutations in males cause severe neurologic defects, ichthyosis, and skeletal abnormalities due to complete loss of sterol isomerase activity. | OMIM #300960 |
| X-linked dominant chondrodysplasia punctata | Impaired cholesterol synthesis results in defective bone mineralization and punctate calcifications in cartilage. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.1 | Low |
| Adrenal gland | 15.2 | Medium |
| Testis | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.4 | Liver carcinoma line |
| A549 | 7.2 | Lung carcinoma line |
| MCF7 | 6.8 | Breast carcinoma line |
| HEK293 | 5.5 | Embryonic kidney line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.332G>A (p.Gly111Asp) | Missense | Rare | Loss of enzyme activity |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of function |
| c.580C>T (p.Arg194*) | Nonsense | Rare | Truncated protein, no activity |
| c.346_348del (p.Phe116del) | In-frame deletion | Rare | Impaired sterol binding |
Mutation functional classification
Loss of Function (LOF)
Most EBP mutations result in partial or complete loss of sterol isomerase activity, leading to accumulation of 8-dehydrocholesterol and 8(9)-cholesterol.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EBP.
Dominant Negative (DN)
Some missense mutations may exert a dominant-negative effect in heterozygous females, contributing to the X-linked dominant inheritance pattern.
View complete mutation data：
Gene Ontology (GO)
| • C-8 sterol isomerase activity (GO:0000247) | • endoplasmic reticulum (GO:0005783) |
| • cholesterol biosynthetic process (GO:0006695) | • sterol biosynthetic process (GO:0016126) |
Pathways
• Cholesterol biosynthesis (Reactome: R-HSA-191273)
• Metabolism of steroids (KEGG: hsa00100)
Protein Summary
The EBP protein (3β-hydroxysteroid-Δ8,Δ7-isomerase) is a 230-amino acid transmembrane enzyme anchored in the endoplasmic reticulum. It catalyzes the isomerization of Δ8-sterols to Δ7-sterols, a critical step in the Bloch and Kandutsch-Russell pathways of cholesterol synthesis. Defects in this enzyme lead to accumulation of toxic sterol precursors and cause X-linked dominant skeletal and skin disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EBPL Knockout HEK293 Cell Line | EDJ-KQ10149 | Human | 84650 | Details Get a Quote |
| EBPL Knockout A-549 Cell Line | EDJ-KQ37251 | Human | 84650 | Details Get a Quote |
| EBPL Knockout HCT 116 Cell Line | EDJ-KQ37252 | Human | 84650 | Details Get a Quote |
| EBPL Knockout HeLa Cell Line | EDJ-KQ37253 | Human | 84650 | Details Get a Quote |
| EBP Knockout HEK293 Cell Line | EDJ-KQ51000 | Human | 10682 | Details Get a Quote |
| EBP Knockout HeLa Cell Line | EDJ-KQ55461 | Human | 10682 | Details Get a Quote |
| EBP Knockout A-549 Cell Line | EDJ-KQ63946 | Human | 10682 | Details Get a Quote |
| EBP Knockout HCT 116 Cell Line | EDJ-KQ72402 | Human | 10682 | Details Get a Quote |
