AGAP5
Title: agap5: A Multifaceted Gene with Implications in Neurodegenerative Diseases
Description:
agap5 (ArfGAP with GTPase-activating protein, ANK repeats, and PH domain 5) is a complex gene encoding a multidomain protein involved in various cellular processes. Its primary function lies in regulating the activity of ARF (ADP-ribosylation factor) GTPases, which play a crucial role in vesicle trafficking and organelle function.
Associated Diseases:
Mutations in agap5 have been linked to several neurodegenerative diseases, including:
- Charcot-Marie-Tooth Disease Type 2K (CMT2K): This is a progressive neuropathy characterized by muscle weakness and atrophy, particularly in the lower extremities.
- Spinocerebellar Ataxia Type 43 (SCA43): A rare neurodegenerative disorder that affects the cerebellum, brain stem, and spinal cord, leading to impaired coordination, speech difficulties, and muscle weakness.
- Amyotrophic Lateral Sclerosis (ALS): A progressive neurodegenerative disease that affects motor neurons, resulting in muscle weakness, paralysis, and eventually death.
- Parkinson‘s Disease (PD): A degenerative disorder characterized by tremors, rigidity, and impaired movement due to the loss of dopamine-producing neurons in the brain.
Did you Know ?
A study conducted by the National Institute of Neurological Disorders and Stroke (NINDS) revealed that agap5 mutations account for approximately 5% of all cases of CMT2K.
