FAM224A
Title: FAM224A: A Gene with a Key Role in Various Diseases
Description:
FAM224A is a gene located on chromosome 4q21.1, encoding a protein known as Family with Sequence Similarity 224 Member A. This protein plays a crucial role in cellular processes and has been associated with numerous diseases.
Associated Diseases:
Various diseases have been linked to mutations or dysregulation of the FAM224A gene, including:
- Autism Spectrum Disorder (ASD): FAM224A has been identified as a candidate gene for ASD, with certain mutations increasing the risk of developing the disorder.
- Schizophrenia: Studies have suggested that FAM224A is involved in the pathophysiology of schizophrenia, with alterations in its expression or function contributing to the disorder.
- Intellectual Disability: Mutations in FAM224A have been associated with intellectual disability, often accompanied by other developmental anomalies.
- Chorea-Acanthocytosis: This rare neurological disorder is caused by mutations in FAM224A, leading to progressive movement abnormalities and seizures.
- Other Conditions: FAM224A has also been implicated in conditions such as amyotrophic lateral sclerosis (ALS), Parkinson‘s disease, and cancer.
Did you Know ?
- Mutations in the FAM224A gene are estimated to occur in approximately 1 in 2,000 people in the general population. However, the prevalence is higher in individuals with certain diseases, such as ASD or chorea-acanthocytosis.
