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HLD7
Chr 10ARRNA polymerase III subunit A
Also known as: ADDH, C160, HLD7, RPC1, RPC155, WDRTS, hRPC155
This gene encodes the catalytic component of RNA polymerase III, which synthesizes small RNAs and acts as a sensor to detect foreign DNA and trigger innate immune responses. Biallelic mutations cause autosomal recessive hypomyelinating leukodystrophy 7, which may be associated with oligodontia and/or hypogonadotropic hypogonadism. The condition primarily affects white matter development in the brain along with potential involvement of dental and endocrine systems.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HLD7?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
HLD7 · 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
External Resources
Links to major genomics databases and tools