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CNE4
Chr X, YADARCNE4 enhancer downstream of SHOX
CNE4 is a conserved enhancer element that regulates expression of the SHOX gene, which is critical for skeletal development. Deletions and duplications of this enhancer cause Leri-Weill dyschondrosteosis, idiopathic short stature, and Langer mesomelic dysplasia, primarily affecting skeletal growth and limb development. The element is located in the pseudoautosomal region of the X and Y chromosomes, resulting in pseudoautosomal inheritance patterns.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CNE4?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CNE4 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools