DISEASES

Disease-gene associations mined from literature

Literature associating POLR1D and Waardenburg syndrome type 3

POLR1D [ENSP00000302478]

DNA-directed RNA polymerases I and III subunit RPAC2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively; Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family.

Synonyms:  POLR1D,  POLR1Dp,  hPOLR1D,  A0A087WTY1,  A0A087X0U2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM