QPCTL
qpctl Gene: An Essential Guide to a Multifaceted DNA Sequence
Description
The qpctl gene, located on chromosome 11q13, plays a crucial role in various biological processes and is associated with several diseases. It encodes a protein known as glutaminyl-peptide cyclotransferase-like protein (QPCTL), which is involved in the formation of cyclic glutamine-containing peptides, known as pyroglutamyl peptides. These peptides serve as signaling molecules and have diverse functions in the body.
Associated Diseases
Mutations or abnormalities in the qpctl gene have been linked to several diseases, including:
- Epileptic Encephalopathy: A rare and severe form of epilepsy that typically manifests in infancy or early childhood. Patients experience frequent seizures, developmental delays, and cognitive impairments.
- Intellectual Disability: Impaired cognitive function and adaptive behavior.
- Autism Spectrum Disorder (ASD): A neurodevelopmental disorder characterized by social and communication difficulties, as well as repetitive behaviors.
Did you Know ?
Approximately 1 in 25,000 individuals worldwide are affected by epileptic encephalopathy caused by mutations in the qpctl gene.
