2024年12月25日 · HBB (Hemoglobin Subunit Beta) is a Protein Coding gene. Diseases associated with HBB include Sickle Cell Disease and Beta-Thalassemia, Dominant Inclusion Body Type. Among its related pathways are Innate Immune System and Erythrocytes take up carbon dioxide and release oxygen.

The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells.

2025年3月17日 · The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia.

β-globin is encoded by the HBB gene on human chromosome 11. Mutations in the gene produce several variants of the proteins which are implicated with genetic disorders such as sickle-cell disease and beta thalassemia, as well as beneficial traits such as genetic resistance to malaria.

2023年12月20日 · The Hbb gene, also known as the hemoglobin subunit beta gene, is a crucial gene involved in the production of hemoglobin, a protein responsible for oxygen transport in red blood cells. While its main function is related to erythrocyte physiology and hemoglobin production, emerging evidence suggests that the Hbb gene may play a role in ...

2000年9月28日 · HBB is contained within the HBB gene cluster, which includes HBD, HBG1, HBG2, and an HBB pseudogene, HBBP1. HBB encodes hemoglobin subunit beta. The heterodimeric protein hemoglobin A (HbA) is made up of …

Mutations in the HBB gene, which is located on chromosome 11 p15.5 [5], are responsible for several serious hemoglobinopathies, such as sickle cell anemia and β-thalassemia. Hemoglobinopathies are a set of hereditary diseases caused by the abnormal structure or insufficient production of hemoglobin.

the HBB gene that results in the production of an abnormal version of beta-globin called hemoglobin S (HbS). In people with this condition, hemoglobin S replaces both beta-globin subunits in hemoglobin. The variant that causes hemoglobin S changes a single protein building block (amino acid) in beta-globin.

The HBB gene, on chromosome 11, codes for beta-globin protein. Two molecules of beta-globin combine with two molecules of alpha-globin to form hemoglobin. Hemoglobin protein is a major part of red blood cells. It gives blood its color and allows it to carry oxygen.

2025年1月4日 · HBB hemoglobin subunit beta Gene ID: 3043, updated on 4-Jan-2025 Gene type: protein coding Also known as: ECYT6; CD113t-C; beta-globin. See all available tests in GTR for this gene; Go to complete Gene record for HBB; Go …