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POLR3B encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. Additionally we are shipping Polymerase (RNA) III (DNA Directed) Polypeptide B Antibodies (40) and many more products for this protein.
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first reports of long deletions causing POLR3-related leukodystrophy, suggesting that deletions and duplications in POLR3A (show POLR3A Proteins) or POLR3B should be investigated in patients with a compatible phenotype
Mutations in POLR3A (show POLR3A Proteins) or POLR3B are rare in patients with unclassified hypomyelination.
INMAP as a model regulator of CENP-B (show CENPB Proteins)
These results suggest that INMAP might function through p53 (show TP53 Proteins)/p21 (show CDKN1A Proteins) pathways.
Most patients with 4H leukodystrophy carried the common c.1568T>A POLR3B mutation on one allele.
MRI (show C7ORF49 Proteins) in patients with POLR3B mutations revealed smaller cerebellar structures, especially vermis, than those in POLR3A (show POLR3A Proteins) mutations. MRI (show C7ORF49 Proteins) also showed milder hypomyelination in patients with POLR3B mutations than those with POLR3A (show POLR3A Proteins) mutations
Investigated POLR3A (show POLR3A Proteins) and POLR3B mutations in patients with genetically unexplained hypomyelinating leukodystrophies with features of Pol III-related leukodystrophies. Recessive mutations in POLR3A (show POLR3A Proteins) or POLR3B were uncovered in all 14 patients.
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 (show TP53 Proteins) and AP-1 (show FOSB Proteins) pathways, providing a possible link of its activity with tumourigenesis
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy
The Polr3b in the hippocampus in the prefrontal cortex of the DBA (show RPS19 Proteins)/2 J strain were up-regulated.
This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
DNA-directed RNA polymerase III subunit RPC2
, DNA-directed RNA polymerase III 127.6 kDa polypeptide
, DNA-directed RNA polymerase III subunit B
, RNA polymerase III subunit C2
, DNA-directed RNA polymerase III B
, RNA polymerase III subunit RPC2 homolog