ABCG4
Hemoglobin ABCG4: A Comprehensive Overview
Description
Hemoglobin ABCG4 (ATP-binding cassette subfamily G member 4) is a protein responsible for transporting various molecules across cell membranes. It belongs to the ABC superfamily of transporters and is predominantly expressed in erythrocytes (red blood cells). ABCG4 plays a crucial role in the transport of glutathione (GSH) and other molecules, contributing to the protection of cells against oxidative stress.
Associated Diseases
Mutations in the ABCG4 gene have been linked to various blood disorders and diseases:
- Congenital Dyserythropoietic Anemia Type III (CDA III): A rare, inherited blood disorder characterized by ineffective erythropoiesis (red blood cell production) and severe anemia.
- Hemolytic Anemia: A condition where red blood cells are prematurely destroyed, leading to anemia.
- Microcephaly: A developmental brain disorder characterized by an abnormally small head size.
- Joubert Syndrome: A genetic disorder characterized by cerebellar abnormalities and developmental delays.
- X-Linked Sideroblastic Anemia with Ataxia: A rare, debilitating disorder involving anemia, ataxia (incoordination), and iron accumulation in cells.
Did you Know ?
According to the National Institutes of Health (NIH), approximately one in every 20,000 individuals carries a mutation in the ABCG4 gene, making it a relatively common genetic disorder.
