SGOL1
SGOL1 Gene: An Insight into Its Significance and Role in Health
Description
The SGOL1 gene, also known as shugoshin-like 1, is located on chromosome 10 in humans. It encodes a protein that plays a crucial role in the accurate segregation of chromosomes during cell division, particularly in meiosis. Meiosis is the specialized cell division process that produces gametes (eggs and sperm) with half the number of chromosomes as the parent cell.
Associated Diseases
Mutations in the SGOL1 gene have been linked to several rare genetic disorders, including:
- Primary microcephaly (MCPH): A congenital condition characterized by an abnormally small head and brain.
- Seckel syndrome: A rare genetic disorder characterized by severe growth retardation, microcephaly, and distinctive facial features.
- Cornelia de Lange syndrome (CdLS): A genetic disorder that affects multiple body systems, including growth, development, and intellectual function.
Did you Know ?
A study involving over 2,000 individuals with microcephaly identified mutations in the SGOL1 gene in approximately 1% of cases. This suggests that mutations in SGOL1 are a significant contributor to primary microcephaly.
