CTNNAL1
CTNNA1: A Crucial Gene in Human Health
Description:
CNTNA1 (catenin alpha 1) is a gene located on chromosome 2p13.1 in humans. It produces a protein involved in the development and regulation of cell adhesion, tissue formation, and various cellular processes. CNTNA1 is essential for normal cell growth and differentiation.
Associated Diseases:
Mutations in the CNTNA1 gene are associated with several diseases, including:
- Congenital heart defects: Mutations in CNTNA1 have been linked to congenital heart defects, particularly those involving the left ventricle.
- Moebius syndrome: This rare neurological condition affects facial muscles and causes facial paralysis and difficulty swallowing.
- Arthrogryposis multiplex congenita: A group of disorders that result in joint contractures and muscle weakness at birth.
- Intellectual disability: Some individuals with mutations in CNTNA1 have been reported to have intellectual disability.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are affected by Moebius syndrome, which is caused by mutations in the CNTNA1 gene.
