Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
NEDHCS
Chr 1ARSmad nuclear interacting protein 1
Also known as: NEDHCS, PML1, PMRED
The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits TGF-beta and NF-kB signaling, while also regulating cyclin D1 mRNA stability. Mutations cause a neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures, following autosomal recessive inheritance. This condition affects multiple systems including the nervous system (developmental delay, seizures, hypotonia) and craniofacial development.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDHCS?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
NEDHCS · 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 →No open access results found
External Resources
Links to major genomics databases and tools