CENPA
CENPA: The Crucial Protein Controlling Chromosome Segregation
Description
CENPA (centromere protein A) is a vital protein that plays a central role in chromosome segregation during cell division. It is a component of the kinetochore, a complex protein structure that assembles at the centromere, the specialized region of chromosomes where spindle fibers attach to facilitate chromosome separation during mitosis and meiosis.
CENPA is present in all eukaryotes, from yeast to humans. It is synthesized throughout the cell cycle but accumulates specifically at centromeres during mitosis and meiosis. This accumulation is essential for the proper attachment of spindle fibers and the accurate segregation of chromosomes.
Associated Diseases
Mutations or dysregulations in CENPA have been linked to several genetic disorders, including:
- Aneuploidy: An abnormal number of chromosomes, which can lead to developmental disabilities, birth defects, and cancer.
- Mitotic checkpoint defects: Impaired ability to detect and correct chromosome segregation errors, which can contribute to aneuploidy and cancer.
- Chromosomal instability syndromes: Conditions characterized by an increased susceptibility to chromosomal rearrangements and genetic instability, leading to developmental abnormalities and an increased risk of cancer.
Did you Know ?
CENPA is the most abundant protein at the centromere, accounting for up to 50% of the total kinetochore protein mass. This highlights its critical importance in chromosome segregation.
