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HLD11
Chr 6RNA 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. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/HLD11?content-type=application/json&expand=1
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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Links to major genomics databases and tools