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.

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.

2025年3月8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.

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.

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 …

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 ...

Hundreds of HBB gene variants (also called mutations) have been found to cause beta thalassemia. Most of the variants involve a change in a single DNA building block (nucleotide) within or near the HBB gene. Other variants insert or …

Sierakowska et al. (1996) found that treatment of mammalian cells stably expressing the IVS2-654 beta HBB gene (141900.0348) with antisense oligonucleotides targeted at the aberrant splice sites restored correct splicing in a dose-dependent fashion, generating correct human beta-globin mRNA and polypeptide. Both products persisted for up to 72 ...

2016年9月14日 · 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. In adults, hemoglobin typically consists of four protein subunits: two subunits of beta-globin and two subunits of a protein called alpha-globin, which ...

HBB (HGNC Symbol) This gene contains MANE Select ENST00000335295, ENSP00000333994. This gene has proteins that correspond to the following UniProtKB identifiers: P68871. This Ensembl/Gencode gene contains transcript (s) for which we …