Disease-gene associations mined from literature

Literature associating POLR1A and Treacher Collins syndrome

POLR1A [ENSP00000263857]

DNA-directed RNA polymerase I largest subunit; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol I by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity).

Synonyms:  POLR1A,  POLR1Ap,  hPOLR1A,  B7Z8X7,  B9ZVN9 ...

Linkouts:  STRING  Pharos  UniProt