KIAA0430
KIAA0430: A Comprehensive Guide to Its Role in Human Health
Description
KIAA0430, also known as KIAA0430 protein or centrosomal protein of 430 kDa, is a protein that plays a crucial role in the structure and function of centrosomes, which are cellular organelles responsible for organizing microtubules and facilitating cell division.
KIAA0430 is composed of multiple domains that facilitate its interactions with various proteins and cellular components. It is highly conserved across species, suggesting its fundamental importance in cellular processes.
Associated Diseases
Mutations in the KIAA0430 gene have been linked to several human diseases, including:
- Microcephaly: A condition characterized by an abnormally small head and brain size. Mutations in KIAA0430 have been found in some cases of microcephaly, indicating its role in brain development.
- Intellectual Disability: Some individuals with KIAA0430 mutations exhibit intellectual disabilities of varying degrees, highlighting its involvement in cognitive function.
- Multiple Congenital Anomalies: KIAA0430 mutations have also been associated with multiple congenital anomalies, such as heart defects, limb abnormalities, and facial dysmorphisms.
Did you Know ?
Studies have shown that approximately 1 in 100,000 individuals worldwide carry mutations in the KIAA0430 gene. This prevalence highlights the significance of KIAA0430 in human health.
