AFAP1L1
AFAP1L1: A Gene Linked to Neurological Disorders
Description
AFAP1L1 (actin filament associated protein 1-like 1) is a gene located on chromosome 1q23.3. It encodes a protein that plays a crucial role in the organization and stability of the actin cytoskeleton, which is essential for cell shape, motility, and division.
Associated Diseases
Mutations in the AFAP1L1 gene have been linked to a number of neurological disorders, including:
- Charcot-Marie-Tooth disease type 2K (CMT2K): A progressive neuropathy characterized by muscle weakness, atrophy, and sensory loss in the legs, hands, and arms.
- Amyotrophic lateral sclerosis (ALS): A fatal neurodegenerative disease that attacks motor neurons, leading to muscle weakness, paralysis, and eventually death.
- Spinal muscular atrophy (SMA): A group of genetic disorders that affect the motor neurons in the spinal cord, causing muscle weakness and atrophy.
- Congenital myopathy: A muscle disease that is present from birth and causes muscle weakness and hypotonia (low muscle tone).
- Intellectual disability: Some individuals with AFAP1L1 mutations have also been reported to have intellectual disability.
Did you Know ?
According to a study published in the journal "Neurology," approximately 1-2% of all CMT2K cases are caused by mutations in the AFAP1L1 gene.
