KIAA0556
Description:
Kiaa0556 is a protein encoded by the KIAA0556 gene in humans. It is a large protein with 3,373 amino acids and a molecular weight of approximately 370 kDa. Kiaa0556 is primarily expressed in the brain, with lower levels found in other tissues such as the heart, liver, and kidneys.
The exact function of Kiaa0556 is still under investigation, but it is thought to play a role in regulating gene expression and cellular development. Studies have shown that Kiaa0556 interacts with numerous proteins involved in these processes, including the transcription factor YY1 and the chromatin remodeling complex SWI/SNF.
Associated Diseases:
Mutations in the KIAA0556 gene have been linked to several inherited disorders, including:
- Tibial muscular dystrophy (TMD): TMD is a rare muscle disorder characterized by progressive muscle weakness and atrophy in the lower legs. It is caused by mutations in the KIAA0556 gene that result in a loss of protein function.
- Severe infantile encephalopathy: This is a rare and devastating disorder that affects newborn babies. It is caused by mutations in the KIAA0556 gene that lead to a gain of protein function. Affected infants experience seizures, developmental delays, and breathing difficulties.
Did you Know ?
A study published in 2019 found that mutations in the KIAA0556 gene are present in approximately 1 in 50,000 individuals worldwide. However, the prevalence of these mutations varies significantly among different populations.
