CDK12mutant

CDK12mutant is a term used to describe a specific mutation in the CDK12 gene. CDK12 is a member of the cyclin-dependent kinase family, which plays a crucial role in cell cycle regulation and DNA replication. Mutations in CDK12 have been associated with various genetic disorders, including cancer and developmental abnormalities.

The CDK12 gene is located on chromosome 12q24.3. The most commonly studied mutation is a missense mutation at codon 135, where a single nucleotide change results in an amino acid substitution from arginine to cysteine (R135C). This mutation has been found in individuals with familial breast cancer and other types of cancer.

The functional impact of the CDK12 R135C mutation is not fully understood, but it is believed to alter the kinase activity of CDK12, leading to dysregulation of cell cycle progression. This dysregulation can contribute to the development of cancer by promoting uncontrolled cell growth and division.

Research on CDK12mutant is ongoing, with studies focusing on its role in cancer development and potential therapeutic targets. Understanding the molecular mechanisms underlying CDK12 mutations is essential for developing targeted therapies and improving patient outcomes.