HMP19
hmp19
Description
HMP19, also known as hemopexin-like protein 19, is a protein that plays a crucial role in the body's iron homeostasis. It is responsible for transporting free hemoglobin in the plasma to the liver, where it is recycled into new red blood cells. HMP19 also has antioxidant properties, protecting cells from oxidative damage caused by free radicals.
Associated Diseases
Mutations in the HMP19 gene have been linked to several rare genetic disorders, including:
- Hemopexin deficiency: This condition is characterized by low levels of HMP19 in the blood, resulting in decreased hemoglobin transport and subsequent iron deficiency.
- Juvenile hemochromatosis: This rare disorder is caused by mutations that lead to an overproduction of HMP19, resulting in iron overload in the liver and other organs.
- Autosomal dominant cerebral cavernous malformations: This condition is characterized by the formation of abnormal blood vessels in the brain, which can lead to seizures, headaches, and other neurological symptoms.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by hemopexin deficiency.
