LOC104968399
Loc104968399: A Comprehensive Guide
Description
Loc104968399 is a gene located on chromosome 11p15.5 in humans. It encodes a protein known as transmembrane protein 73 (TMEM73). TMEM73 is a transmembrane protein expressed in various tissues, including the brain, spinal cord, and muscle. It is involved in several important cellular processes, including cell adhesion, signal transduction, and immune function.
Associated Diseases
Mutations in the loc104968399 gene have been associated with several human diseases, including:
- Spinocerebellar ataxia type 12 (SCA12): A rare neurological disorder characterized by progressive degeneration of the cerebellum and spinal cord, leading to impaired coordination and balance.
- Amyotrophic lateral sclerosis (ALS): A fatal neurodegenerative disease that affects the motor neurons in the brain and spinal cord, leading to muscle weakness and paralysis.
- Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, cognitive impairment, and behavioral changes.
- Parkinson's disease: A neurodegenerative disorder characterized by tremor, rigidity, and impaired coordination.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are affected by SCA12, making it a relatively rare neurological disorder. However, it is the most common type of spinocerebellar ataxia in the Philippines.
