EBP
Chr XXLDXLREBP cholestenol delta-isomerase
Also known as: CDPX2, CHO2, CPX, CPXD, D8D7I, MEND
EBP encodes an isomerase that catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers in the cholesterol biosynthesis pathway. Mutations cause X-linked chondrodysplasia punctata type 2 (Conradi-Hünermann syndrome) and MEND syndrome, skeletal disorders characterized by stippled cartilage calcifications and limb abnormalities. The gene shows X-linked dominant inheritance and is highly constrained against loss-of-function variants (pLI 0.94, LOEUF 0.34).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EBP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
ACTIVE NOT RECRUITINGEvidence Based Probiotic Therapy of Proton Pump Inhibitor Induced Dysbiosis
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools