KIAA0196
KIAA0196: A Comprehensive Guide to the Gene and Its Associated Diseases
Description
KIAA0196 is a human gene located on chromosome 10q24.31. It encodes a protein of unknown function, but studies have suggested its involvement in various biological processes, including cell growth, differentiation, and apoptosis.
Associated Diseases
Mutations in the KIAA0196 gene have been associated with several diseases, including:
- Intellectual disability: Mutations in KIAA0196 have been identified in individuals with intellectual disability, developmental delay, and autism spectrum disorder.
- Schizophrenia: Genome-wide association studies have found a link between KIAA0196 variants and an increased risk of schizophrenia.
- Autism spectrum disorder (ASD): Variations in KIAA0196 have been associated with an increased susceptibility to ASD, particularly in combination with other genetic factors.
- Neurodevelopmental disorders: Mutations in KIAA0196 have also been implicated in other neurodevelopmental disorders, such as microcephaly (small head size) and corpus callosum agenesis (absence of the brain's connecting fibers).
Did you Know ?
According to a study published in the journal "Molecular Psychiatry," mutations in the KIAA0196 gene are found in approximately 1% of individuals with schizophrenia. This statistic suggests that KIAA0196 plays a significant role in the development of this mental disorder.
