WBP1
The WBP1 Gene: Unraveling Its Role in Health and Disease
Description
The WBP1 gene (WW domain binding protein 1) is located on chromosome 3q21.2 and encodes a protein that plays a crucial role in various cellular processes, including transcription, splicing, and DNA repair. The WBP1 protein consists of four WW domains, which act as docking sites for other proteins, enabling the formation of protein complexes essential for proper cell function.
Associated Diseases
Mutations in the WBP1 gene have been linked to several genetic disorders, including:
- Diamond-Blackfan anemia (DBA): DBA is a rare inherited bone marrow failure syndrome characterized by anemia, low platelet counts, and a high risk of acute myeloid leukemia (AML).
- Congenital sideroblastic anemia (CSA): CSA is another bone marrow failure syndrome characterized by the accumulation of iron in red blood cells, leading to ineffective erythropoiesis.
- Myelodysplastic syndromes (MDS): MDS are a group of blood disorders that involve the abnormal growth of blood cells in the bone marrow.
- Acute myeloid leukemia (AML): AML is a type of cancer that arises from the uncontrolled growth of myeloid cells in the bone marrow.
Did you Know ?
- Approximately 15-20% of DBA cases are caused by mutations in the WBP1 gene.
