KIF18B
KIF18B: A Gene with Profound Implications in Neurological Development and Disease
Description
KIF18B, an essential kinesin motor protein, plays a crucial role in transporting vital cellular cargoes along microtubules, a network of tracks within cells. This intricate transport system is fundamental for various cellular processes, including cell division, neuronal development, and organelle positioning. KIF18B‘s precise orchestration of these processes is essential for maintaining cellular homeostasis and overall health.
Associated Diseases
Mutations in the KIF18B gene have been linked to a diverse spectrum of neurological disorders, collectively known as KIF18B-Associated Neurological Disorders (KANDs). These conditions often manifest in infancy or early childhood and can present with a wide range of symptoms, including:
- Developmental delay
- Intellectual disability
- Motor impairments
- Speech difficulties
- Seizures
- Hypotonia (low muscle tone)
- Dysmorphic facial features
- Feeding difficulties
- Respiratory problems
Did you Know ?
Approximately 1 in every 10,000 individuals is estimated to be affected by KANDs, highlighting the significance of KIF18B in neurological health.
