HBB

The HBB gene encodes the β-chain of hemoglobin (Hb), a tetrameric protein composed of two α-chains and two β-chains, which is responsible for transporting oxygen within red blood cells. The structure of hemoglobin includes the primary structure composed of amino acid sequences, the secondary structure formed by α-helices, the tertiary structure of a globular three-dimensional conformation, and the quaternary structure of the tetramer. The primary function of hemoglobin is to transport oxygen from the lungs to various tissues in the body and transport carbon dioxide from the tissues back to the lungs, maintaining the balance of oxygen in the body. Mutations in the HBB gene can lead to abnormalities in the β-chain of hemoglobin, further affecting its function and structure, potentially triggering hemoglobin-related diseases. Therefore, the HBB gene plays a crucial role in maintaining normal physiological functions in the human body.