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HLD8

Chr 12AR

RNA polymerase III subunit B

Also known as: C128, CMT1I, HLD8, INMAP, RPC2

NCBI Gene: 55703 OMIM: 614381

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.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— HLD8

💊

Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/HLD8?content-type=application/json&expand=1

gnomad: Error: Gene not found