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HLD8
Chr 12ARRNA polymerase III subunit B
Also known as: C128, CMT1I, HLD8, INMAP, RPC2
The protein forms part of the catalytic center of RNA polymerase III, which synthesizes transfer RNAs and small ribosomal RNAs. Mutations cause autosomal recessive hypomyelinating leukodystrophy type 8, which may include oligodontia and hypogonadotropic hypogonadism in addition to the primary white matter abnormalities.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HLD8?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
HLD8 · 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