DISEASES

Disease-gene associations mined from literature

Literature associating POLR3H and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism

POLR3H [ENSP00000347345]

DNA-directed RNA polymerase III subunit RPC8; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein- Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa- B through the RIG-I pathway (By similarity); Belongs to the eukaryotic RPB7/RPC8 RNA polymerase subunit family.

Synonyms:  POLR3H,  POLR3Hp,  hPOLR3H,  A0A024R1P3,  E7ERZ2 ...

Linkouts:  STRING  Pharos  UniProt