| Type | Description |
|---|---|
| Definition | RNA polymerase I and III subunit C |
| Date | Results | Publications |
|---|---|---|
| 2020-07-11 11:49:00 | eport here a new family with two sisters affected by mild TCS carrying compound POLR1C heterozygous mutations, and review the literature on mild forms of TCS, autosomal recessive inheritance in this syndrome and POLR1C mutations | 30957429 |
| 2020-06-20 10:24:00 | The clinical and imaging findings of patients with POLR1C hypomyelinating leukodystrophy are reviewed. Interestingly, severe myoclonic dystonia and T2 hypointensity of the substantia nigra and the subthalamic nucleus are not reported yet and could be helpful for the diagnosis of POLR1C hypomyelinating leukodystrophy. | 31368241 |
| 2018-04-14 10:36:00 | Treacher Collins syndrome 3-associated mutation leads to the localization of POLR1C into the lysosome and inhibits chondrogenic differentiation, possibly explaining a portion of the pathological molecular basis underlying Treacher Collins syndrome. | 29567474 |
| 2016-11-05 11:50:00 | We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. | 25790162 |
| 2016-04-23 11:26:00 | This study is the first to show that distinct mutations in a gene coding for a shared subunit of two RNA polymerases lead to selective modification of the enzymes' availability leading to two different clinical conditions. | 26151409 |
| Type | IDs |
|---|---|
| Synonymous | AC40, HLD11, RPA39, RPA40, RPA5, RPAC1, RPC40, TCS3 |
| Gene |
UniProtKB-ID:
RPAC1_HUMAN
UniprotKB:
O15160
UniParc:
UPI00001345BC,
UPI000002B2AE
EMBL:
AL355802,
AF008442,
AF047441,
BC008863
Ensembl:
ENSG00000171453
KO:
hsa:9533
|
| Nucleutide sequences |
EMBL-CDS:
AAC14354.1,
AAC39892.1,
AAH08863.1
Ensembl_TRS:
ENST00000607635,
ENST00000642195,
ENST00000304004
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000496044,
ENSP00000307212,
ENSP00000496683
RefSeq:
NP_976035.1,
NP_001350587.1,
NP_001305805.1
|
| Others |
UniRef100:
UniRef100_O15160
UniRef90:
UniRef90_O15160
UniRef50:
UniRef50_O15160
UniGene:
Hs.743509
CCDS:
CCDS4900.1,
CCDS4901.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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