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The protein encoded by POLR3A is the catalytic component of RNA polymerase III, which synthesizes small RNAs. Additionally we are shipping Polymerase (RNA) III (DNA Directed) Polypeptide A, 155kDa Antibodies (35) and many more products for this protein.
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monogenic or digenic POLR3A and POLR3C (show POLR3C Proteins) deficiencies confer increased susceptibility to severe VZV disease in otherwise healthy children, providing evidence for an essential role of a DNA sensor in human immunity
This is the first individual reported with two truncating POLR3A variants, suggesting that biallelic severe loss of function variants are associated with WRS (show KCNQ1 Proteins). Sequencing of POLR3A and perhaps related genes such as POLR3B (show POLR3B Proteins) in additional patients with clinical findings of WRS (show KCNQ1 Proteins) is needed to prove this gene-disease association.
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.
For some of its complex functions, variation in RNAP III activity levels lead to nonuniform changes in tRNA pools that can shift the translation profiles of key codon-biased mRNAs with resultant phenotypes or disease states. (Review)
Mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
RNA polymerase III (RNAPIII) is specialized for transcription of short, abundant nonprotein-coding RNA transcripts.
Our transcriptome-wide investigations revealed an overall decrease in the levels of Pol III-transcribed tRNAs and an imbalance in the levels of regulatory ncRNAs such as small nuclear and nucleolar RNAs (snRNAs and snoRNAs).
Multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations in POLR3A and POLR3B (show POLR3B Proteins) without the classic MRI (show C7ORF49 Proteins) 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 (show C7ORF49 Proteins) presentation of POLR3-related disorders
Mutations in POLR3A or POLR3B (show POLR3B Proteins) are rare in patients with unclassified hypomyelination.
Mutations in POLR3A are associated with a more severe clinical course of 4H leukodystrophy.
The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response.
DNA-directed RNA polymerase III subunit RPC1
, polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
, DNA-directed RNA polymerase III largest subunit
, DNA-directed RNA polymerase III subunit A
, RNA polymerase III 155 kDa subunit
, RNA polymerase III subunit C1
, RNA polymerase III subunit C160
, RNA polymerase III subunit RPC155-D