SPACA7
The spaca7 Gene: A Vital Player in Neurodevelopment and Disease
Description
The spaca7 gene, located on chromosome 16q12.1, encodes a protein called Sperm-associated antigen 7. This protein is primarily expressed in neurons and plays a crucial role in neurodevelopment, particularly in synapse formation and function. Spaca7 is involved in the regulation of synaptic vesicle release, which is essential for the transmission of signals between neurons.
Associated Diseases
Mutations in the spaca7 gene have been linked to a range of neurodevelopmental and neurological disorders, including:
- Intellectual disability: Spaca7 mutations are a common cause of mild to moderate intellectual disability, often accompanied by developmental delays and behavioral problems.
- Autism spectrum disorder (ASD): Spaca7 mutations have been identified in a subset of individuals with ASD, particularly those with language impairments and social difficulties.
- Schizophrenia: Studies have suggested that certain spaca7 variants may increase the risk of developing schizophrenia, a severe mental illness characterized by hallucinations, delusions, and disorganized thinking.
- Epilepsy: Mutations in spaca7 have been associated with an increased risk of seizures, particularly in childhood and adolescence.
Did you Know ?
Approximately 1 in 1,000 individuals carry a mutation in the spaca7 gene, making it one of the more common genetic causes of neurodevelopmental disorders.
