ZASP
ZASP Gene: Unveiling a Critical Factor in Early Development and Disease Susceptibility
Description
The ZASP gene encodes a protein called zonal action, sperm-associated protein, also known as cavin-1. This protein plays a vital role during early embryonic development, where it localizes to the centrosomes, spindle poles, and midbody during cell division. ZASP is crucial for organizing and maintaining the integrity of these structures, ensuring the accurate segregation of chromosomes during cell division.
Associated Diseases
Mutations in the ZASP gene have been linked to several developmental and genetic disorders, including:
- Microcephaly: Characterized by an abnormally small head size, intellectual disability, and growth retardation.
- Primary microcephaly: A specific form of microcephaly caused by mutations in the ZASP gene, resulting in problems with brain development.
- Seckel syndrome: A rare genetic disorder characterized by severe growth retardation, microcephaly, and distinctive facial features.
- Cornelia de Lange syndrome: A genetic condition that affects multiple systems, including growth, development, and intellectual function.
- Joubert syndrome: A neurological disorder that affects brain development, leading to coordination problems, intellectual disability, and eye abnormalities.
Did you Know ?
According to a recent study, mutations in the ZASP gene account for approximately 20% of cases of primary microcephaly. This highlights the significant role of ZASP in the proper development of the brain.
