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HLD21
Chr 16ARRNA polymerase III subunit K
Also known as: C11, C11-RNP3, HLD21, My010, RPC10, RPC11, RPC12.5
This protein is an essential subunit of RNA polymerase III that synthesizes transfer RNAs and small ribosomal RNAs, and is required for proper transcriptional pausing and termination. Mutations cause hypomyelinating leukodystrophy 21, 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/HLD21?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
HLD21 · 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
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External Resources
Links to major genomics databases and tools