KIAA1109
KIAA1109: A Gene Linked to Neurodevelopmental Disorders
Description:
KIAA1109 is a gene located on chromosome 11q13.3. It encodes a protein called KIAA1109, which is a component of the mTORC1 complex. The mTORC1 complex plays a crucial role in cell growth, proliferation, and metabolism. Mutations in the KIAA1109 gene have been associated with a range of neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and epilepsy.
Associated Diseases:
Mutations in the KIAA1109 gene have been linked to the following neurodevelopmental disorders:
- Intellectual disability
- Autism spectrum disorder
- Epilepsy
- Schizophrenia
- Microcephaly
- Developmental delay
Did you Know ?
Approximately 1 in 10,000 individuals worldwide are affected by a neurodevelopmental disorder associated with mutations in the KIAA1109 gene.
