Disease-gene associations mined from literature

Literature associating POLR3E and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism

POLR3E [ENSP00000299853]

DNA-directed RNA polymerase III subunit RPC5; 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. Essential for efficient transcription from both the type 2 VAI and type 3 U6 RNA polymerase III promoters. 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).

Synonyms:  POLR3E,  POLR3Ep,  hPOLR3E,  A0A0C4DH01,  H3BM46 ...

Linkouts:  STRING  Pharos  UniProt