FAM3C
FAM3C: A Gene Linked to Neurodevelopmental and Cardiovascular Health
Description
FAM3C (Family with Sequence Similarity 3C) is a gene located on chromosome 19q13.2. It encodes a protein known as FAM3C, which plays a critical role in various cellular processes, including RNA metabolism, protein synthesis, and signal transduction.
Associated Diseases
Mutations in the FAM3C gene have been associated with several neurodevelopmental and cardiovascular disorders, including:
- Intellectual disability: FAM3C mutations can cause intellectual disability, ranging from mild to severe.
- Autism spectrum disorder (ASD): FAM3C mutations have been found in individuals with ASD, particularly those with intellectual disability.
- Congenital heart defects: Some FAM3C mutations have been linked to congenital heart defects, such as atrial septal defect and ventricular septal defect.
- Cardiomyopathy: FAM3C mutations can also lead to cardiomyopathy, a condition characterized by weakened heart muscle.
Did you Know ?
Approximately 1 in 25,000 individuals is estimated to have a FAM3C mutation. However, the prevalence of FAM3C-related disorders varies depending on the specific mutation and population studied.
