FAM71A
fam71a: A Gene with Widespread Implications
Description
FAM71A is a gene that encodes a protein known as family with sequence similarity 71, member A. This protein plays a crucial role in various cellular processes, including cell division, cell migration, and the organization of the cytoskeleton.
Associated Diseases
Mutations in the FAM71A gene have been linked to several genetic disorders, including:
- Microcephaly: A condition characterized by an abnormally small head circumference.
- Intellectual disability: A general term for deficits in cognitive abilities that impact daily functioning.
- Neurodevelopmental disorders: A group of disorders that affect brain development and function, such as autism spectrum disorder and attention deficit hyperactivity disorder (ADHD).
- Congenital heart defects: Malformations of the heart that are present at birth.
- Craniofacial anomalies: Abnormalities in the shape or structure of the head and face.
Did you Know ?
Studies have found that approximately 1% of individuals with intellectual disability carry mutations in the FAM71A gene, making it a significant genetic cause of this condition.
