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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EBP
EBP cholestenol delta-isomerase
Chromosome X Β· Xp11.23
NCBI Gene: 10682Ensembl: ENSG00000147155.12HGNC: HGNC:3133UniProt: A0A024QYX0
87PubMed Papers
22Diseases
0Drugs
81Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cholesterol-5,6-oxide hydrolase activityendoplasmic reticulumendoplasmic reticulum membranenuclear envelopeMEND syndromeX-linked chondrodysplasia punctata 2X-linked dominant chondrodysplasia punctataneurodegenerative disease
✦AI Summary

Based on the provided abstracts, insufficient information is available to generate a comprehensive gene function summary for EBP (EBP cholestenol delta-isomerase). The abstracts primarily discuss evidence-based practice methodology in healthcare 123, vascular biology 4, cardiac signaling 5, and bacterial pili 6. Only two abstracts contain relevant information about the EBP gene: one describes a clinical case of Conradi-HΓΌnermann-Happle syndrome caused by EBP mutations, presenting with skin abnormalities, cataracts, and skeletal defects 7, and another identifies EBP as a sterol isomerase involved in cholesterol biosynthesis, showing that lathosterol (an EBP product) accumulates when RAB18 or RAB3GAP1 are disrupted, and that cholesterol biosynthesis is impaired in these conditions 8. The clinical significance appears related to X-linked chondrodysplasia punctata, but the molecular mechanisms and detailed functional roles of EBP cannot be adequately described based solely on these limited references.

Sources cited
1
EBP mutations cause Conradi-HΓΌnermann-Happle syndrome with skin, ocular, and skeletal abnormalities
PMID: 21163155
2
EBP functions as a sterol isomerase in cholesterol biosynthesis, with lathosterol as a product
PMID: 37774976
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
MEND syndromeOpen Targets
0.81Strong
X-linked chondrodysplasia punctata 2Open Targets
0.78Strong
X-linked dominant chondrodysplasia punctataOpen Targets
0.76Strong
neurodegenerative diseaseOpen Targets
0.48Moderate
chondrodysplasia punctataOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
polydactylyOpen Targets
0.37Weak
genetic disorderOpen Targets
0.33Weak
connective tissue diseaseOpen Targets
0.31Weak
Intellectual disabilityOpen Targets
0.12Weak
neoplasmOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
cervical cancerOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.06Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
focal palmoplantar and gingival keratodermaOpen Targets
0.05Suggestive
Chondrodysplasia punctata 2, X-linked dominantUniProt
MEND syndromeUniProt
Pathogenic Variants81
NM_006579.3(EBP):c.558G>A (p.Trp186Ter)Pathogenic
not provided|Chondrodysplasia punctata 2 X-linked dominant
β˜…β˜…β˜†β˜†2025β†’ Residue 186
NM_006579.3(EBP):c.238G>A (p.Glu80Lys)Pathogenic
Chondrodysplasia punctata 2 X-linked dominant|Connective tissue disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 80
NM_006579.3(EBP):c.301+2_301+3delLikely pathogenic
EBP-related disorder|not provided
β˜…β˜…β˜†β˜†2025
NM_006579.3(EBP):c.440G>A (p.Arg147His)Pathogenic
Chondrodysplasia punctata 2 X-linked dominant|not provided|Chondrodysplasia punctata 2 X-linked dominant;MEND syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 147
NM_006579.3(EBP):c.184C>T (p.Arg62Trp)Pathogenic
not provided|Chondrodysplasia punctata 2 X-linked dominant
β˜…β˜…β˜†β˜†2023β†’ Residue 62
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter)Pathogenic
Chondrodysplasia punctata 2 X-linked dominant|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 87
NM_006579.3(EBP):c.293C>T (p.Ser98Phe)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 98
NM_006579.3(EBP):c.204G>T (p.Trp68Cys)Pathogenic
Chondrodysplasia punctata 2 X-linked dominant|not provided|Nonpapillary renal cell carcinoma
β˜…β˜…β˜†β˜†2022β†’ Residue 68
NM_006579.3(EBP):c.439C>T (p.Arg147Cys)Pathogenic
not provided|MEND syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 147
NM_006579.3(EBP):c.328C>T (p.Arg110Ter)Pathogenic
Chondrodysplasia punctata 2 X-linked dominant|not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 110
NM_006579.3(EBP):c.329G>A (p.Arg110Gln)Pathogenic
Chondrodysplasia punctata 2 X-linked dominant|not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 110
NM_006579.3(EBP):c.386G>A (p.Trp129Ter)Pathogenic
Chondrodysplasia punctata 2 X-linked dominant|not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 129
NM_006579.3(EBP):c.246G>A (p.Trp82Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 82
NM_006579.3(EBP):c.385T>C (p.Trp129Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 129
NM_006579.3(EBP):c.226C>G (p.His76Asp)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 76
NM_006579.3(EBP):c.381C>A (p.Cys127Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 127
NM_006579.3(EBP):c.224T>A (p.Ile75Asn)Likely pathogenic
MEND syndrome|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 75
NM_006579.3(EBP):c.226C>T (p.His76Tyr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 76
NM_006579.3(EBP):c.248_252dup (p.Leu85fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 85
NM_006579.3(EBP):c.159del (p.Ala54fs)Likely pathogenic
Chondrodysplasia punctata 2 X-linked dominant
β˜…β˜†β˜†β˜†2024β†’ Residue 54
View on ClinVar β†—
Related Genes
HSD17B7Protein interaction100%FADS1Protein interaction100%KCNH6Protein interaction90%ARSLProtein interaction84%NSDHLProtein interaction81%ACAT2Protein interaction73%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
19%
Heart
15%
Lung
12%
Brain
9%
Ovary
6%
Gene Interaction Network
Click a node to explore
EBPHSD17B7FADS1KCNH6ARSLNSDHLACAT2
PROTEIN STRUCTURE
Preparing viewer…
PDB8W0R Β· 2.80 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.34Highly Constrained
pLIβ“˜
0.99Intolerant
Observed/Expected LoF0.07 [0.03–0.34]
RankingsWhere EBP stands among ~20K protein-coding genes
  • #5,473of 20,598
    Most Researched87
  • #921of 5,498
    Most Pathogenic Variants81 Β· top quartile
  • #1,422of 17,882
    Most Constrained (LOEUF)0.34 Β· top 10%
Genes detectedEBP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PICO: What it is and what it is not.
PMID: 34534728
Nurse Educ Pract Β· 2021
1.00
2
Evidence-based practice.
PMID: 12149896
Nurse Res Β· 2002
0.90
3
JAM-A Acts via C/EBP-Ξ± to Promote Claudin-5 Expression and Enhance Endothelial Barrier Function.
PMID: 32673519
Circ Res Β· 2020
0.80
4
Mst1-mediated phosphorylation of FoxO1 and C/EBP-Ξ² stimulates cell-protective mechanisms in cardiomyocytes.
PMID: 39060225
Nat Commun Β· 2024
0.70
5
Conradi-HΓΌnermann-Happle syndrome.
PMID: 21163155
Dermatol Online J Β· 2010
0.60