PQLC2
Unveiling the Secrets of the pqlc2 Gene: A Comprehensive Guide
Description
The pqlc2 gene, located on chromosome 11q22.3, plays a crucial role in various cellular processes, including cell division, DNA repair, and transcription. It encodes the protein PQBP1 (pachytene-like cyclin-dependent kinase-associated protein binding protein 1), which forms a complex with CDK1 and helps regulate the cell cycle.
Associated Diseases
Mutations in the pqlc2 gene have been linked to several genetic disorders, including:
- Cancers: pqlc2 mutations have been found in certain types of cancers, such as breast cancer, lung cancer, and leukemia. These mutations disrupt the normal function of PQBP1, leading to cell cycle deregulation and tumor development.
- Neurological disorders: Mutations in pqlc2 have also been associated with neurological disorders, such as intellectual disability, epilepsy, and autism spectrum disorder. These mutations affect the expression of PQBP1 in brain tissues, leading to developmental abnormalities and impaired cognitive function.
- Mitochondrial disorders: pqlc2 mutations have been linked to mitochondrial dysfunction in some cases. These mutations affect the interaction between PQBP1 and mitochondrial proteins, disrupting energy production and cell survival.
Did you Know ?
A recent study estimated that pqlc2 mutations occur in approximately 0.5% of newborns. While this may seem like a small number, it highlights the prevalence of this gene and its potential impact on human health.
