LOC101927698
loc101927698: A Gene of Intrigue and Importance
Description
loc101927698 is a human gene located on chromosome 6. It encodes a protein called Synaptotagmin-like protein 6 (SYTL6). SYTL6 is a synaptic vesicle protein that plays a crucial role in neurotransmission, the process by which nerve cells communicate with each other.
Associated Diseases
Mutations in loc101927698 have been linked to several neurodevelopmental disorders, including:
- Autism spectrum disorder
- Intellectual disability
- Developmental delay
- Epilepsy
Studies have shown that these mutations can disrupt the normal function of SYTL6, leading to impaired neurotransmission and developmental abnormalities.
Did you Know ?
Research indicates that approximately 1% of individuals with autism spectrum disorder carry a mutation in loc101927698. This suggests that this gene may be a significant contributor to the development of this condition.