C12orf80
c12orf80: Unraveling the Mystery of a Protein Linked to Neurological Disorders
Description
c12orf80 (chromosome 12 open reading frame 80) is a protein encoded by the C12orf80 gene located on chromosome 12 in humans. It is primarily found in the cytoplasm of neuronal cells.
The exact function of c12orf80 remains unknown, but research suggests it plays a crucial role in neurological development and function. Some studies have linked it to the regulation of cell growth, migration, and differentiation during brain development.
Associated Diseases
Mutations in the C12orf80 gene have been associated with several neurological disorders, including:
- Spinocerebellar ataxia type 25 (SCA25): A progressive neurodegenerative disorder characterized by impaired coordination, speech difficulties, and tremors.
- Joubert syndrome: A rare developmental disorder characterized by a distinctive brain malformation, intellectual disability, and eye abnormalities.
- Intellectual disability: Some individuals with intellectual disabilities have been found to have mutations in the C12orf80 gene.
Did you Know ?
- Mutations in the C12orf80 gene account for approximately 2-5% of cases of SCA25, a relatively rare neurodegenerative disorder.
