FAM74A1
Title: FAM74A1: A Gene Linked to Neurodevelopmental and Cardiac Disorders
Description
FAM74A1 (family with sequence similarity 74, member A1) is a gene encoding a protein that plays crucial roles in cellular processes, particularly in the development and function of the nervous and cardiovascular systems. Mutations in this gene have been associated with a range of neurodevelopmental and cardiac disorders.
Associated Diseases
Neurodevelopmental Disorders:
- Intellectual disability
- Autism spectrum disorder
- Speech and language impairments
- Motor coordination difficulties
Cardiac Disorders:
- Congenital heart defects (e.g., tetralogy of Fallot, ventricular septal defects)
- Arrhythmias (e.g., long QT syndrome, Brugada syndrome)
- Cardiomyopathy (e.g., dilated cardiomyopathy)
Did you Know ?
According to a recent study published in the American Journal of Human Genetics, an estimated 1 in 10,000 individuals worldwide carry a mutation in the FAM74A1 gene.
