KIF1A

Description

The KIF1A gene provides instructions for making a protein called kinesin-1A, a crucial motor protein responsible for transporting essential molecules along microtubule tracks within cells. This process is essential for proper neuronal development and function, impacting various aspects like axonal transport, synaptic transmission, and overall brain circuitry. Mutations in the KIF1A gene can disrupt this intricate transport system, leading to a spectrum of neurological disorders.

Associated Diseases

• KIF1A-Related Disorder (KIF1A-RD)
• Spastic Paraplegia 56 (SPG56)
• Hereditary Spastic Paraplegia (HSP)
• Infantile-Onset Optic Atrophy
• Cerebral Palsy
• Intellectual Disability
• Seizures
• Developmental Delay
• Autonomic Dysfunction

Did you know?

KIF1A protein is like a tiny delivery truck within cells, moving essential cargo along microtubule tracks, which are like roads within the cell.