Kif5C Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Gene Symbol: KIF5C
Full Name: Kinesin Family Member 5C
Chromosomal Location: 2q23.3
NCBI Gene ID: 3800
OMIM: 604593
Ensembl ID: ENSG00000154640
UniProt ID: Q9P0N2
Associated Diseases: Intellectual Disability, Cortical Malformations
KIF5C (Kinesin Family Member 5C) is a neuron-specific kinesin heavy chain that functions in axonal transport. It is highly expressed in brain, particularly in cortical neurons. KIF5C, along with KIF5A, is the main kinesin-1 isoform in neurons. Mutations in KIF5C cause intellectual disability and cortical malformations, highlighting its critical role in neuronal development and connectivity.
KIF5C is a neuron-specific kinesin heavy chain that functions in axonal transport. It is highly expressed in brain, particularly in cortical neurons. KIF5C, along with KIF5A, is the main kinesin-1 isoform in neurons. Mutations in KIF5C cause intellectual disability and cortical malformations, highlighting its critical role in neuronal development and connectivity.
Axonal transport is essential for maintaining neuronal health. Defects in kinesin-mediated transport are implicated in:
KIF5C is predominantly expressed in:
Targeting axonal transport mechanisms may provide therapeutic benefits for neurodegenerative diseases.
The study of Kif5C Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.