POLR2C

POLR2C, also known as RPB23 or hRPB23, is a gene in humans that encodes a subunit of RNA polymerase II (Pol II). RNA polymerase II is a complex enzyme responsible for transcribing DNA into messenger RNA (mRNA) precursors and most small nuclear RNAs (snRNAs) and microRNAs (miRNAs). These RNAs are essential for protein synthesis and gene regulation.

The protein encoded by the POLR2C gene is a component of the Pol II core enzyme. This core enzyme is composed of twelve subunits that work together to initiate and elongate transcription. Specifically, POLR2C, with a molecular weight of approximately 23 kDa, plays a role in the stability and assembly of the Pol II complex. It interacts with other subunits to ensure proper function and structural integrity.

The POLR2C gene is located on chromosome 16q24.2. Mutations in this gene have been linked to neurodevelopmental disorders, although these occurrences are rare. These mutations can disrupt the structure or function of the RNA polymerase II complex, leading to defects in gene expression during development. The precise mechanisms by which POLR2C mutations lead to these disorders are still under investigation.

Studies have shown that POLR2C is essential for cell viability. Depletion of POLR2C can lead to cell cycle arrest and apoptosis (programmed cell death). Furthermore, POLR2C is ubiquitously expressed in human tissues, indicating its importance in a wide range of cellular processes.

Research continues to explore the specific roles of POLR2C in transcription regulation and its involvement in disease. Understanding the function of POLR2C and its interactions with other proteins may provide insights into the molecular mechanisms underlying various genetic disorders.