KIAA1598
KIAA1598: A Gene with Diverse Roles in Human Health and Disease
Description
KIAA1598 is a human gene located on chromosome 13 that encodes a protein of the same name. The KIAA1598 protein plays a role in a multitude of cellular processes, including cell growth, differentiation, and metabolism. It is involved in the regulation of gene expression, protein synthesis, and cellular signaling cascades.
Associated Diseases
Mutations in the KIAA1598 gene have been linked to several human diseases, including:
- Schizophrenia: Studies have identified variations in the KIAA1598 gene in individuals with schizophrenia, suggesting its involvement in the development of the disorder.
- Autism Spectrum Disorder (ASD): Research has also shown an association between KIAA1598 mutations and the risk of ASD.
- Intellectual Disability: Mutations in KIAA1598 have been linked to various forms of intellectual disability, indicating its role in neurocognitive development.
- Cancer: Alterations in KIAA1598 expression have been observed in certain types of cancer, such as breast and lung cancer.
Did you Know ?
Approximately 1% of the human population carries a variant of the KIAA1598 gene that has been associated with an increased risk of schizophrenia. This highlights the significant impact that this gene can have on human health.
