Identity
HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
AC40,HLD11,RPA39,RPA40,RPA5,RPAC1,RPC40,TCS3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9533
MIM: 610060
HGNC: 20194
Ensembl: ENSG00000171453
Variants:
dbSNP: 9533
ClinVar: 9533
TCGA: ENSG00000171453
COSMIC: POLR1C
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33005949 | 2021 | Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. | 19 |
| 33804237 | 2021 | Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia. | 2 |
| 33005949 | 2021 | Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. | 19 |
| 33804237 | 2021 | Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia. | 2 |
| 30957429 | 2019 | Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. | 11 |
| 31368241 | 2019 | Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia. | 7 |
| 30957429 | 2019 | Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. | 11 |
| 31368241 | 2019 | Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia. | 7 |
| 29567474 | 2018 | Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. | 1 |
| 29567474 | 2018 | Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. | 1 |
| 25790162 | 2016 | Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. | 50 |
| 25790162 | 2016 | Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. | 50 |
| 26151409 | 2015 | Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. | 92 |
| 26151409 | 2015 | Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. | 92 |
| 24690222 | 2014 | Treacher Collins Syndrome: the genetics of a craniofacial disease. | 23 |
Citation
Dessen P
POLR1C (RNA polymerase I and III subunit C)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72048/polr1c-(rna-polymerase-i-and-iii-subunit-c)
