ACTL7B
ACTL7B: A Gene Associated with Intellectual Disability and Other Developmental Disorders
Description
ACTL7B (Actin-Like 7B) is a gene located on chromosome 11q14.1. It encodes a protein that plays a critical role in the formation and function of actin filaments, which are essential for various cellular processes, including cell motility, cell division, and cell signaling. Mutations in the ACTL7B gene have been associated with a range of developmental disorders, most notably intellectual disability.
Associated Diseases
Mutations in ACTL7B have been linked to several developmental disorders, including:
- Intellectual disability
- Microcephaly (small head size)
- Autism spectrum disorder
- Schizophrenia
- Attention deficit hyperactivity disorder (ADHD)
- Congenital heart defects
- Skeletal abnormalities
Did you Know ?
According to a recent study, mutations in ACTL7B are estimated to occur in approximately 1 in 10,000 individuals with intellectual disability. This makes ACTL7B one of the most common genetic causes of intellectual disability.
