FAM71C
FAM71C: A Gene Linked to Intellectual Disability and Neurodevelopmental Disorders
Description
FAM71C is a gene located on chromosome 16q24.1. It encodes a protein known as Family with Sequence Similarity 71 Member C, which is involved in various cellular processes. FAM71C plays a crucial role in the development and function of the central nervous system.
Associated Diseases
Mutations in the FAM71C gene have been linked to several neurodevelopmental disorders, including:
- Intellectual disability
- Autism spectrum disorder
- Microcephaly (small head size)
- Angelman-like syndrome
- Congenital heart defects
Individuals with FAM71C mutations often experience developmental delays, learning difficulties, and behavioral problems. The severity of symptoms can vary depending on the specific mutation.
Did you Know ?
According to a study by the University of California, San Diego, approximately 1 in 10,000 individuals have a mutation in the FAM71C gene. This makes it one of the more common genetic causes of intellectual disability.
