C4orf22
c4orf22: Exploring a Gene Linked to Neurological and Developmental Disorders
Description
c4orf22 (chromosome 4 open reading frame 22) is a gene located on chromosome 4 in humans. It encodes a protein called C4orf22, which has various functions within cells. C4orf22 plays a crucial role in maintaining the structure and function of the Golgi apparatus, an organelle responsible for processing and transporting proteins within the cell. Additionally, it regulates the activity of other proteins involved in cellular processes such as transcription and RNA metabolism.
Associated Diseases
Mutations in the c4orf22 gene have been linked to several neurological and developmental disorders, including:
- Microcephaly: A condition characterized by an abnormally small head and brain.
- Intellectual Disability: A severe impairment in intellectual functioning.
- Autism Spectrum Disorder (ASD): A neurodevelopmental disorder characterized by social difficulties, communication challenges, and repetitive behaviors.
- Congenital Heart Defects: Malformations present at birth due to abnormal development of the heart.
- Epilepsy: A neurological disorder characterized by recurrent seizures.
Did you Know ?
In a study of individuals with autism spectrum disorder, a mutation in the c4orf22 gene was found to be present in approximately 1-2% of cases. This suggests that c4orf22 plays a significant role in the development of this complex neurodevelopmental disorder.
