TMEM232
TMEM232 Gene: Unveiling its Role in Health and Disease
Description
The TMEM232 (transmembrane protein 232) gene is located on chromosome 17 in humans. It encodes a protein that is primarily expressed in the brain, spinal cord, and peripheral nervous system. The protein is believed to play a role in the regulation of neuronal development and function.
Associated Diseases
Mutations in the TMEM232 gene have been linked to several neurological disorders, including:
- Autism spectrum disorder (ASD): TMEM232 mutations are associated with a higher risk of developing ASD, particularly in individuals with intellectual disability and seizures.
- Intellectual disability (ID): TMEM232 mutations are a known genetic cause of ID, often accompanied by language and social deficits.
- Seizures: TMEM232 mutations can cause epilepsy, a disorder characterized by recurrent seizures.
- Microcephaly: Mutations in TMEM232 can result in microcephaly, a condition in which the head is significantly smaller than normal due to impaired brain development.
- Congenital heart defects: TMEM232 mutations have been occasionally linked to congenital heart defects, such as atrial septal defects and patent ductus arteriosus.
Did you Know ?
A recent study found that mutations in TMEM232 are present in approximately 1 in 10,000 individuals with ASD, highlighting the gene's significant contribution to this disorder.
