KIAA1432
kiaa1432 Gene: An Intriguing Player in Health and Disease
Description
The kiaa1432 gene, located on chromosome 19 in humans, encodes a protein that plays a crucial role in various cellular processes, including cell division, DNA repair, and stress response. This multifunctional protein is involved in multiple signaling pathways and interacts with several other proteins within the cell.
Associated Diseases
Research has linked mutations in the kiaa1432 gene to several health conditions:
- Neurodevelopmental disorders: Mutations in kiaa1432 have been implicated in intellectual disability, autism spectrum disorder, and microcephaly.
- Cancer: Altered kiaa1432 expression has been observed in various types of cancer, including lung cancer, breast cancer, and gastric cancer.
- Mitochondrial disorders: Mutations in kiaa1432 can lead to impaired mitochondrial function, resulting in energy production issues and neurological problems.
- Cardiovascular disease: Studies suggest that kiaa1432 may play a role in regulating heart function and blood pressure.
Did you Know ?
Approximately 1 in 10,000 individuals have a mutation in the kiaa1432 gene. These mutations can range from rare variants with significant functional consequences to more common polymorphisms with milder effects.
