ACTL6A
Understanding ACTL6A: A Comprehensive Guide
Description
ACTL6A (Actin-Like 6A) is a highly conserved protein that plays a crucial role in regulating cell division, particularly during mitosis. It is expressed in various tissues throughout the body and is essential for maintaining genomic integrity. ACTL6A interacts with other proteins, including actin, to form a complex that stabilizes microtubules, the structural components of the mitotic spindle. This complex ensures the proper segregation of chromosomes during cell division.
Associated Diseases
Mutations in ACTL6A have been linked to several genetic disorders, including:
- Microcephaly: A condition characterized by an abnormally small head size due to impaired brain development.
- Intellectual disability: A range of cognitive and developmental difficulties.
- Congenital heart defects: Malformations of the heart present at birth.
- Dysmorphic features: Physical abnormalities, such as distinct facial features or skeletal deformities.
Did you Know ?
Approximately 1 in 100,000 individuals are affected by ACTL6A-related disorders, making it a rare but significant genetic condition.
