MINOS1
Description of Minos1
Minos1, also known as CCDC113, is a protein that plays a crucial role in maintaining the integrity of the cell's nucleus and regulating gene expression. It is highly conserved across species, indicating its essential function in cellular processes.
Associated Diseases
Mutations in the MINOS1 gene have been linked to several rare genetic disorders, including:
- Larsen syndrome: A connective tissue disorder characterized by joint dislocations, facial dysmorphism, and intellectual disability.
- Feingold syndrome: A developmental disorder associated with intellectual disability, speech delay, and distinctive facial features.
- VACTERL-H association: A collection of birth defects affecting the heart, limbs, gastrointestinal tract, kidneys, and hearing.
- Isolated microcephaly: A condition where the head size is significantly smaller than average.
Relevant Statistics
Estimates suggest that Larsen syndrome affects approximately 1 in 100,000 live births, while Feingold syndrome is even rarer, occurring in about 1 in 500,000 live births.
