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HLD7

Chr 10AR

RNA polymerase III subunit A

Also known as: ADDH, C160, HLD7, RPC1, RPC155, WDRTS, hRPC155

NCBI Gene: 11128 OMIM: 607694

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.

OMIM ResearchSummary from RefSeq, OMIM

The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— HLD7

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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/HLD7?content-type=application/json&expand=1

gnomad: Error: Gene not found