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.



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.