LOC220729
loc220729: A Comprehensive Guide to Understanding
Description:
loc220729, also known as the gene encoding the protein FAM46C, is located on chromosome 14q11.2 in humans. The FAM46C protein plays a crucial role in the regulation of cell growth, differentiation, and apoptosis (programmed cell death). Mutations in loc220729 have been associated with various genetic disorders, including intellectual disability, autism spectrum disorder, and certain types of cancer.
Associated Diseases:
- Intellectual Disability: Mutations in loc220729 have been identified as a cause of intellectual disability, characterized by difficulties with cognitive and adaptive behaviors.
- Autism Spectrum Disorder (ASD): loc220729 mutations have also been linked to ASD, a neurodevelopmental condition affecting social communication and interaction.
- Cancer: Aberrant expression of loc220729 has been observed in certain types of cancer, including breast cancer, lung cancer, and leukemia. Further research is needed to determine the specific role of loc220729 in cancer development and progression.
Did you Know ?
According to the National Institutes of Health (NIH), mutations in loc220729 are found in approximately 0.5% of individuals with intellectual disability and 1-2% of individuals with ASD.
