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.

2025年3月17日 · Gene target information for HBB - hemoglobin subunit beta (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

2023年12月20日 · The Hbb gene structure consists of three exons and two introns, with the exons containing the coding sequence necessary for the production of beta-globin. Understanding the structure of the Hbb gene is essential in order to study its functions, mutations, and implications.

Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB gene, which along with alpha globin (HBA), makes up the most common form of haemoglobin in adult humans, hemoglobin A (HbA). [5]

The major hemoglobin in adult humans, hemoglobin A, is a heterotetramer composed of two α-globin and two β-globin polypeptides, each with an associated heme group. These are encoded by the duplicated HBA1 and HBA2 genes and by the HBB gene, respectively (Fig. 1). Hemoglobins are produced only in erythroid cells, where they are the major protein.

hemoglobin subunit beta [Source:HGNC Symbol;Acc: HGNC:4827] BETA-GLOBIN, CD113T-C. Chromosome 11: 5,225,464-5,229,395 reverse strand. GRCh38:CM000673.2. This gene has …

Transcription produces 6 different mRNAs, 5 alternatively spliced variants and 1 unspliced form. There are 2 probable alternative promotors, 2 non overlapping alternative last exons and 2 validated alternative polyadenylation sites (see the diagram).

Identifying mutations in the HBB gene through preliminary actions can help mitigate health disparities in vulnerable populations. This study focused on the exon 1 region of the HBB gene, unlike others that examined the entire gene, but did not explore intronic variants, which is …

4 天之前 · The authors replaced HBB introns with HBG2 introns and truncated HBG intron-2 to 147 bp, in addition to codon-wobbling the HBB exons. Together, these modifications significantly reduced the size of the donor HBB gene template and avoided sequence homology with the endogenous HBB gene without compromising high levels of β-globin expression. The rationale behind this approach was to reduce ...

Both gamma globin and the single epsilon genes are expressed in early embryonic and fetal erythroid tissues. In adult life the beta and delta globin genes are expressed (Entrez, 2011). All these functional or active genes have at least three exons and two introns which are found in the erythroid globin genes.