BTBD2
Description
The BTBD2 (BTB domain containing 2) is a protein-coding gene located on chromosome 19.
BTBD2 is a protein encoded by the BTBD2 gene in humans. The protein's C-terminus binds to topoisomerase I, while its N-terminus contains a proline-rich region and a BTB/POZ domain, both commonly involved in protein interactions. BTBD2 localizes to cytoplasmic bodies within cells. It has been shown to interact with TOP1.
BTBD2 is also known as -.
Associated Diseases
- dehydrated hereditary stomatocytosis
- sideroblastic anemia 3
- hemoglobin D disease
- severe congenital hypochromic anemia with ringed sideroblasts
- hemoglobin E disease
- microcytic anemia with liver iron overload
- overhydrated hereditary stomatocytosis
- cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
