Disease-gene associations mined from literature

Literature associating POLR2C and immunodeficiency 25

POLR2C [ENSP00000219252]

Polymerase (RNA) II (DNA directed) polypeptide C, 33kDa; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB3 is part of the core element with the central large cleft and the clamp element that moves to open and close the cleft (By similarity).

Synonyms:  POLR2C,  POLR2Cp,  hPOLR2C,  H3BRR2,  P19387 ...

Linkouts:  STRING  Pharos  UniProt  OMIM