FAM102B
FAM102B: A Gene Linked to Neurodevelopmental Disorders
Description
FAM102B (Family with sequence similarity 102 member B) is a gene located on chromosome 1q44 in humans. It encodes a protein known as the transcriptional activator FAM102B. This protein plays a crucial role in regulating gene expression, specifically in the development and function of the central nervous system (CNS).
FAM102B is highly conserved across species, suggesting its importance in biological processes. Its expression is particularly abundant in the brain, especially during embryonic development. During this critical stage, FAM102B contributes to the formation and differentiation of neural cells, including neurons and glial cells.
Associated Diseases
Mutations or variations in the FAM102B gene have been implicated in a range of neurodevelopmental disorders, including:
- Intellectual disability: Individuals with certain mutations in FAM102B exhibit intellectual disabilities, ranging from mild to moderate. These mutations often disrupt the protein's ability to regulate gene expression, leading to imbalances in neural development.
- Autism spectrum disorder (ASD): Studies have identified a link between FAM102B mutations and an increased risk of developing ASD. These mutations can affect the protein's function in regulating synaptic plasticity, a key process in brain development and learning.
- Schizophrenia: FAM102B has also been associated with an increased susceptibility to schizophrenia. Although the exact mechanisms are not fully understood, research suggests that mutations in FAM102B may alter the regulation of genes involved in neurodevelopment and neural connectivity.
Did you Know ?
According to a recent study published in the journal "Nature Genetics," approximately 1% of individuals with intellectual disabilities have a mutation in the FAM102B gene. This statistic highlights the significance of FAM102B in neurodevelopment and the impact of its mutations on cognitive functioning.
