PCNXL4
Discovering the Intriguing World of PCNX4L4: An Essential Gene with Widespread Impact
Description
PCNX4L4 (also known as Polycomb protein X-linked 4 like) is a gene located on the X chromosome, encoding a protein that plays a crucial role in various cellular processes, including DNA transcription, cell cycle regulation, and genomic stability.
Associated Diseases
Mutations in the PCNX4L4 gene have been linked to several rare genetic conditions, including:
- Kleefstra Syndrome (KS): A neurodevelopmental disorder characterized by intellectual disability, developmental delays, and distinctive facial features.
- Coffin-Siris Syndrome (CSS): A rare genetic disorder causing intellectual disability, growth abnormalities, and characteristic facial features.
- Microcephaly (MC): A condition characterized by an abnormally small head size and developmental disabilities.
Did you Know ?
Approximately 1 in every 40,000 individuals is affected by Kleefstra Syndrome, the most common genetic disorder associated with PCNX4L4 mutations.
