TCEB3B
The tceb3b Gene: A Key Player in Brain Function and Disease
Description
The tceb3b gene, located on chromosome 21, encodes a protein known as transcriptional enhancer factor 3B (TEF3B). This protein plays a crucial role in regulating gene expression, influencing the development and function of the brain. TEF3B is particularly abundant in the hippocampus, a brain region involved in learning, memory, and emotional regulation.
Associated Diseases
Mutations in the tceb3b gene have been linked to several neurological and developmental disorders, including:
- Down Syndrome: Individuals with Down Syndrome have an extra copy of chromosome 21, including the tceb3b gene. This gene overexpression is believed to contribute to the cognitive and behavioral characteristics of the disorder.
- Autism Spectrum Disorder (ASD): Studies have found associations between mutations in tceb3b and an increased risk of ASD. These mutations impair TEF3B's ability to regulate gene expression, potentially disrupting brain development and function.
- Intellectual Disability (ID): Mutations in tceb3b have been identified in individuals with ID, characterized by significant impairments in intellectual and adaptive functioning.
- Alzheimer's Disease (AD): Altered expression of TEF3B has been observed in the brains of individuals with AD, suggesting its involvement in disease pathogenesis.
Did you Know ?
Approximately 1 in 312 individuals is estimated to carry a mutation in the tceb3b gene, with varying effects on brain function and disease risk.
