ATXN2L
Understanding ATXN2L: A Comprehensive Guide
Description
ATXN2L (Ataxin-2 Like) is a protein-coding gene located on chromosome 12q24.11. The protein it encodes, also known as ATXN2L, plays a crucial role in several cellular processes, including RNA metabolism, transcriptional regulation, and DNA repair.
Associated Diseases
Mutations in the ATXN2L gene have been linked to the development of several neurological disorders:
- Spinocerebellar Ataxia Type 31 (SCA31): A rare inherited neurodegenerative disorder characterized by progressive movement difficulties, including incoordination, gait instability, and slurred speech.
- Autosomal Dominant Peripheral Axonal Neuropathy (ADPN): A progressive nerve disorder that affects the peripheral nervous system, causing weakness, numbness, and pain in the hands and feet.
- Amyotrophic Lateral Sclerosis (ALS): A fatal neurodegenerative disease that affects the motor neurons in the brain and spinal cord, leading to muscle weakness, atrophy, and eventually loss of mobility.
Did you Know ?
Research has shown that mutations in the ATXN2L gene account for approximately 1% of all cases of SCA31.
