FAM134C
FAM134C: An Essential Gene in Epilepsy and Neurodevelopment
Description:
FAM134C, short for family with sequence similarity 134, member C, is a crucial gene that plays a significant role in brain development and function. The FAM134C gene provides instructions for creating a protein called FAM134C, which is primarily involved in the synaptic vesicle cycling process. Synaptic vesicles are responsible for transmitting signals between neurons.
Associated Diseases:
Mutations in the FAM134C gene have been strongly linked to several neurodevelopmental and neurological conditions, including:
- Epilepsy: FAM134C mutations are a major genetic cause of childhood epilepsy, particularly focal epilepsies. These mutations disrupt the normal functioning of neurons, leading to abnormal electrical activity in the brain that manifests as seizures.
- Autism Spectrum Disorder (ASD): Studies have found that individuals with ASD have a higher prevalence of FAM134C mutations compared to the general population. These mutations may contribute to the social and communication difficulties associated with ASD.
- Intellectual Disability: Mutations in FAM134C have also been linked to intellectual disability, affecting cognitive abilities and adaptive functioning.
Did you Know ?
Approximately 1% of all childhood epilepsy cases are attributed to FAM134C mutations. This highlights the significant impact of this gene on the development and functioning of the brain.
