POLR2K Human

RNA polymerase II is a complex enzyme composed of multiple subunits, and POLR2K is one of these essential subunits. The enzyme itself is a 550 kDa complex consisting of 12 subunits . POLR2K plays a significant role in the formation of the RNA polymerase II complex and is involved in the transcription initiation and promoter clearance processes .

The POLR2K gene is located on chromosome 17 in humans . The gene encodes a protein that is involved in the transcription of DNA into RNA, a process that is fundamental to gene expression and regulation. The protein product of POLR2K is involved in the formation of the active center of RNA polymerase II, which is responsible for the catalytic activity of the enzyme .

POLR2K is associated with several important biological pathways, including the formation of the HIV elongation complex in the absence of HIV Tat and RNA polymerase II transcription initiation and promoter clearance . These pathways are crucial for the proper functioning of the transcription machinery and the regulation of gene expression.

Mutations or dysregulation of the POLR2K gene can lead to various diseases and disorders. For example, POLR2K has been associated with mucopolysaccharidosis, type IVA, and primary ciliary dyskinesia . Understanding the function and regulation of POLR2K is essential for developing potential therapeutic strategies for these conditions.

Human recombinant POLR2K is used in various research applications to study the mechanisms of transcription and gene regulation. Recombinant proteins are produced through genetic engineering techniques, allowing researchers to investigate the structure and function of specific proteins in a controlled environment. This research is vital for advancing our understanding of molecular biology and developing new treatments for genetic disorders.