Disease-gene associations mined from literature

Literature associating POLR1C and Treacher Collins syndrome

POLR1C [ENSP00000361465]

DNA-directed RNA polymerases I and III 40 kDa polypeptide; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity).

Synonyms:  POLR1C,  POLR1Cp,  hPOLR1C,  D6RDJ3,  E7EQB9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM