POLR2J Human

The POLR2J gene is located on chromosome 7q22.1 and encodes a protein that is a core component of RNA polymerase II . The gene belongs to the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7 and a pseudogene on chromosome 7p13 . The protein product of this gene exists as a heterodimer with another polymerase subunit, forming a core subassembly unit of the polymerase .

RNA polymerase II is responsible for the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates . The enzyme synthesizes mRNA precursors and many functional non-coding RNAs. The POLR2J subunit, in particular, is involved in the formation of the RNA polymerase II complex and plays a role in the transcription initiation and promoter clearance .

The recombinant form of POLR2J is produced using recombinant DNA technology, where the gene encoding the protein is cloned into an expression vector and introduced into a host cell, such as E. coli or yeast. The host cells then produce the protein, which can be purified and used for various research and therapeutic applications.

Mutations or dysregulation of the POLR2J gene can be associated with various diseases. For example, alterations in the gene have been linked to microphthalmia, a developmental disorder characterized by abnormally small eyes . Additionally, the gene is involved in pathways related to RNA polymerase II transcription initiation and promoter clearance, as well as pyrimidine metabolism .

The recombinant POLR2J protein is used in various research applications, including studies on transcription mechanisms, protein-protein interactions, and the development of therapeutic interventions targeting RNA polymerase II. Understanding the structure and function of this protein can provide insights into the regulation of gene expression and the development of novel treatments for diseases associated with transcriptional dysregulation.