GS1-259H13.2
Understanding the Complex World of GS1-259H13.2
Description:
GS1-259H13.2 is a unique gene located on chromosome 17p13.1. It encodes a protein involved in the regulation of cell growth and division. This protein plays a crucial role in maintaining the balance between cell proliferation and differentiation, ensuring proper tissue development and preventing uncontrolled cell growth.
Associated Diseases:
Mutations in the GS1-259H13.2 gene have been linked to a spectrum of disorders, including:
- Neurodevelopmental disorders: Autism spectrum disorder, intellectual disability, and developmental delays
- Gastrointestinal disorders: Hirschsprung disease, a condition characterized by an enlarged colon and impaired bowel movements
- Genitourinary disorders: Hypospadias, a birth defect affecting the penis
- Growth retardation: Failure to thrive and short stature
- Cancer: Some studies have suggested an association with certain types of cancer, such as lung and colon cancer
Did you Know ?
- Approximately 0.1% of the population is estimated to carry mutations in the GS1-259H13.2 gene.
