ROPN1
ROP1 Gene: Exploring Its Role in Health and Disease
Description
The ROP1 gene is a crucial component of the human genome that holds instructions for making a protein called Regulator of Pluripotency 1 (ROP1). This protein plays a significant role in maintaining the pluripotency of stem cells, which are undifferentiated cells capable of developing into various cell types.
Associated Diseases
Alterations in the ROP1 gene have been linked to several diseases, including:
- Congenital diaphragmatic hernia (CDH): ROP1 mutations are associated with approximately 10% of CDH cases, a condition characterized by a hole in the diaphragm, the muscle separating the chest and abdomen.
- Microgastria with or without microcephaly and learning disability: Certain ROP1 variants have been identified in individuals with microgastria (small stomach), microcephaly (small head size), and intellectual disability.
- Meckel-Gruber syndrome: ROP1 mutations are a rare cause of Meckel-Gruber syndrome, a rare genetic disorder characterized by multiple organ malformations, including kidney and brain abnormalities.
Did you Know ?
Studies have shown that approximately 1:1,000 newborns are affected by CDH, often associated with ROP1 mutations. Early diagnosis and treatment can significantly improve outcomes for these individuals.
