FAM155A
FAM155A Gene: An In-Depth Exploration
Description
FAM155A (family with sequence similarity 155 member A) is a gene located on chromosome 22q13.1 that encodes a protein involved in various cellular processes, including protein translation, cell signaling, and cell cycle regulation. The FAM155A protein contains a conserved SAM domain, which is known to interact with RNA molecules and play a role in RNA metabolism. Mutations in the FAM155A gene have been associated with several diseases, highlighting its critical role in human health.
Associated Diseases
- Intellectual disability: Mutations in FAM155A have been linked to intellectual disability, a condition characterized by difficulties in cognitive abilities. The severity of intellectual disability varies widely, ranging from mild to severe.
- Autism spectrum disorder (ASD): FAM155A mutations have also been associated with ASD, a neurodevelopmental disorder that affects social interaction, communication, and behavior. Studies suggest that mutations in FAM155A may disrupt protein translation and contribute to the symptoms of ASD.
- Congenital heart defects: Some FAM155A mutations have been identified in individuals with congenital heart defects, particularly atrial septal defects (holes in the heart). The exact mechanism by which FAM155A mutations lead to heart defects is not fully understood.
- Cancer: Overexpression of FAM155A has been observed in certain types of cancer, including colorectal cancer, lung cancer, and breast cancer. However, the role of FAM155A in cancer development and progression is still being investigated.
Did you Know ?
According to the National Institutes of Health (NIH), mutations in the FAM155A gene are estimated to affect approximately 1 in 100,000 individuals worldwide. This rare genetic disorder highlights the importance of understanding the molecular basis of intellectual disability and other associated diseases.
