CUBN : cubilin
Description
The CUBN gene provides instructions for making a protein called cubilin. This protein plays a crucial role in the absorption of vitamin B12 in the small intestine. It binds to vitamin B12, which is attached to a protein called intrinsic factor, and helps transport this complex into the intestinal cells. Vitamin B12 is essential for numerous bodily functions, including the formation of red blood cells, the synthesis of DNA, and the maintenance of the nervous system.
Associated Diseases
- Imerslund-Gräsbeck syndrome (IGS): A rare genetic disorder characterized by vitamin B12 deficiency, leading to megaloblastic anemia and neurological problems.
- Vitamin B12 deficiency: A condition resulting from insufficient intake or impaired absorption of vitamin B12, leading to various symptoms such as fatigue, weakness, and neurological issues.
- Other conditions: Mutations in the CUBN gene can also be associated with other conditions, including some forms of proteinuria and kidney disease.
Did you know?
Cubilin is a very large protein with multiple domains, some of which resemble parts of other proteins involved in nutrient uptake.
