POLR2A - Wikipedia
This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity.
POLR2A Gene - GeneCards | RPB1 Protein | RPB1 Antibody
Dec 25, 2024 · POLR2A (RNA Polymerase II Subunit A) is a Protein Coding gene. Diseases associated with POLR2A include Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities and Skull Base Meningioma.
POLR2A RNA polymerase II subunit A [ (human)] - National …
Data suggest RNA polymerase II (POLR2A) is extensively modified on its unique C-terminal domain (CTD) by O-GlcNAc transferase (OGT); efficient O-GlcNAcylation requires a minimum of 20 heptad CTD repeats in POLR2A and more than half of NTD of OGT.
De Novo Heterozygous POLR2A Variants Cause a …
The RNA polymerase II complex (pol II) is responsible for transcription of all ∼21,000 human protein-encoding genes. Here, we describe sixteen individuals harboring de novo heterozygous variants in POLR2A, encoding RPB1, the largest subunit of pol ...
Germline mutation in POLR2A : a heterogeneous, multi-systemic …
Jan 14, 2021 · We report twelve individuals harboring putatively pathogenic de novo or inherited variants in POLR2A, detail their phenotypes, and map all known variants to the domain structure of POLR2A and crystal structure of RNA polymerase II.
Precise targeting of POLR2A as a therapeutic strategy for ... - Nature
Feb 25, 2019 · Inhibiting POLR2A expression upon siRNA delivery represents a promising therapeutic strategy for triple negative breast cancers characterized by p53 inactivation.
POLR2A deletion with TP53 opens a window of opportunity for therapy
May 19, 2015 · Now, Xiongbin Lu and colleagues highlight that co-depletion of TP53 and one of its neighbouring genes, POLR2A, renders cancer cells highly vulnerable to POLR2A inhibition, providing a new...
POLR2A RNA polymerase II subunit A [ Homo sapiens (human) ]
Feb 9, 2025 · Knockdown of polymerase (RNA) II (DNA directed) polypeptide A (POLR2A, 220kDa) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1: PubMed
Human Disease Genes - Home
This website provides information on patients with changes in the POLR2A gene (OMIM # 180660), including clinical data, molecular data, and management options. The syndrome caused by changes in the POLR2A gene is a multisystem disorder characterized by muscular, neurological, and behavioural abnormalities as well as a range of other symptoms.
De novo POLR2A - Brain and Development
Jul 15, 2021 · Heterozygous POLR2A variants have been recently reported in patients with a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia. POLR2A encodes the highly conserved RBP1 protein, an essential subunit of …