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
NEDHSF
Chr 5ADceramide transporter 1
Also known as: CERT, CERTL, COL4A3BP, GPBP, MRD34, NEDHSF, STARD11
This gene encodes a kinase that phosphorylates the N-terminal region of the alpha 3 chain of type IV collagen (Goodpasture antigen) and is involved in ceramide intracellular transport. Mutations cause a neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies with autosomal dominant inheritance. The disorder primarily affects the nervous system and involves developmental delays in early childhood.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDHSF?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
NEDHSF · 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