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HLD11
Chr 6ARRNA polymerase I and III subunit C
Also known as: AC40, HLD11, RPA39, RPA40, RPA5, RPAC1, RPC40, TCS3
The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes, functioning as part of the Pol core element. Mutations cause hypomyelinating leukodystrophy 11, which follows autosomal recessive inheritance. This condition primarily affects white matter development in the central nervous system.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HLD11?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
HLD11 · 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