SSSCA1
The sssca1 Gene: Unraveling Its Role in Disease
Description:
The sssca1 gene, also known as synaptotagmin-like protein 1, plays a crucial role in regulating neurotransmission, the communication between nerve cells. It encodes for a protein that is found in the presynaptic membrane, the point of contact where signals are transmitted from one neuron to another.
Associated Diseases:
Dysfunction of the sssca1 gene has been implicated in a number of neurological disorders, including:
- Epilepsy: Sssca1 mutations have been found in individuals with epilepsy, particularly forms that occur in childhood. The gene is believed to affect the balance of excitatory and inhibitory signals in the brain.
- Intellectual Disability: Mutations in sssca1 have also been associated with intellectual disability, with affected individuals exhibiting difficulties in learning and memory.
- Autism Spectrum Disorder (ASD): Studies have suggested a link between sssca1 mutations and ASD, although the exact mechanisms are still under investigation.
Did you Know ?
- Sssca1 mutations are relatively rare, with an estimated prevalence of around 1 in every 10,000 individuals. However, they account for a significant proportion of cases of early-onset epilepsy and intellectual disability.
