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
HLD20
Chr 17AR2',3'-cyclic nucleotide 3' phosphodiesterase
Also known as: CN37, CNP1, HLD20
The protein has 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity and is involved in substantia nigra development. Mutations cause hypomyelinating leukodystrophy 20, a white matter disorder affecting myelination in the central nervous system. The condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HLD20?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
HLD20 · 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