| Entrez Gene ID |
51082 |
| Official Gene Symbol |
POLR1D (GeneCards) |
| Full name |
RNA polymerase I and III subunit D |
| Location |
13q12.2 |
| Other ids |
Vega : OTTHUMG00000016635
MIM : 613715
HGNC : HGNC:20422
Ensembl : ENSG00000186184
|
| Other names |
AC19,
RPA9,
TCS2,
RPA16,
RPAC2,
RPC16,
POLR1C,
RPO1-3
|
| Summary |
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] |