C4orf32
c4orf32: A Gene with Complex Roles in Health and Disease
Description
c4orf32 is a human gene located on chromosome 4. It encodes a protein of unknown function that is involved in various cellular processes. This protein contains a C4-type zinc finger domain, which is typically found in proteins involved in RNA binding and gene regulation.
Associated Diseases
Mutations in the c4orf32 gene have been linked to a range of diseases, including:
- Spinocerebellar ataxia type 36 (SCA36): A neurodegenerative disorder characterized by progressive loss of coordination, balance, and speech.
- Arthrogryposis multiplex congenita (AMC): A rare condition characterized by joint deformities and muscle weakness at birth.
- Intellectual disability: c4orf32 mutations have been associated with various forms of intellectual disability, including mild to severe forms.
Did you Know ?
- Mutations in the c4orf32 gene are responsible for approximately 15% of cases of SCA36, making it the most common genetic cause of this disorder.
