POLR1D

The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]

Description

polymerase (RNA) I polypeptide D

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014), RNA polymerase related proteins

Chromosome

13:q12.2 (27620742 - 27667415)

Ensembl ID

ENSG00000186184  (ver. 84.38)

Orthologs

Mouse Polr1d: ENSMUSG00000029642

UniProt

Q9Y2S0

neXtProt

NX_Q9Y2S0

Human splice variants
Mouse splice variants