POLR3B Antibody

1. Novel compound heterozygous variations in POLR3B were identified in a patient with cerebellar hypoplasia with endosteal sclerosis. PMID: 28589944
2. The spectrum of phenotypes resulting from POLR3B mutations is wider than previously believed. PMID: 27512013
3. Findings suggest that AP-1 factors are regulators of RNA polymerase III (Pol III)-driven 5S rRNA and U6 snRNA expression with a potential role in cell proliferation. PMID: 28488757
4. Multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations in POLR3A and POLR3B without the classic MRI phenotype: diffuse hypomyelination is not an obligatory feature of POLR3-related disorders; two distinct patterns, selective involvement of the corticospinal tracts and cerebellar atrophy, are added to the MRI presentation of POLR3-related disorders PMID: 27029625
5. first reports of long deletions causing POLR3-related leukodystrophy, suggesting that deletions and duplications in POLR3A or POLR3B should be investigated in patients with a compatible phenotype PMID: 26045207
6. Mutations in POLR3A or POLR3B are rare in patients with unclassified hypomyelination. PMID: 26011300
7. INMAP as a model regulator of CENP-B PMID: 24633075
8. These results suggest that INMAP might function through p53/p21 pathways. PMID: 25635878
9. Most patients with 4H leukodystrophy carried the common c.1568T>A POLR3B mutation on one allele. PMID: 25339210
10. MRI in patients with POLR3B mutations revealed smaller cerebellar structures, especially vermis, than those in POLR3A mutations. MRI also showed milder hypomyelination in patients with POLR3B mutations than those with POLR3A mutations PMID: 23643445
11. Investigated POLR3A and POLR3B mutations in patients with genetically unexplained hypomyelinating leukodystrophies with features of Pol III-related leukodystrophies. Recessive mutations in POLR3A or POLR3B were uncovered in all 14 patients. PMID: 23355746
12. study reports INMAP is a truncated version of POLR3B, and is up-regulated in several human cancer cell lines; results suggest that INMAP may function through the p53 and AP-1 pathways, providing a possible link of its activity with tumourigenesis PMID: 23124897
13. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy PMID: 22036171
14. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy PMID: 22036172
15. Results suggest that INMAP is a novel protein that plays essential role in spindle formation and cell-cycle progression. PMID: 19331820
16. Data describe the purification and identification of RNA polymerase III subunits RPC2 and RPC5. PMID: 12391170

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HGNC: 30348

OMIM: 614366

KEGG: hsa:55703

STRING: 9606.ENSP00000228347

UniGene: Hs.610795