DISEASES

Disease-gene associations mined from literature

Literature associating POLR3B and hypogonadotropic hypogonadism

POLR3B [ENSP00000228347]

DNA-directed RNA polymerase III 127.6 kDa polypeptide; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). 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.

Synonyms:  POLR3B,  POLR3Bp,  hPOLR3B,  B3KRQ8,  F8VRU2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM