6 天之前 · Gene target information for HBB - hemoglobin subunit beta (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

2025年1月4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.

The objective of this study is to analyze the variations in the HBB gene in the 1,000 Genomes database, to describe the mutation frequencies in the different population groups, and to investigate the pattern of pathogenicity.

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.

2016年9月14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.

Using human induced pluripotent stem cells (iPSCs) from two β-thal patients with different HBB gene mutations, we devised and tested a universal strategy to achieve targeted insertion of the HBB cDNA in exon 1 of HBB gene using Cas9 and two validated guide RNAs.

Hemoglobinopathies are the most common monogenic disorders in the world with an ever increasing global disease burden each year. As most hemoglobinopathies show recessive inheritance carriers are usually clinically silent.

2024年12月25日 · HBB-LCR (Beta-Globin Locus Control Region) is a Functional Element gene. Diseases associated with HBB-LCR include Beta-Thalassemia and Beta-Thalassemia Major. HBB-LCR is a RefSeq non-genic functional element. Its equivalent regulatory element (s) in GeneHancer are GH11J005293, GH11J005272, GH11J005269, GH11J005297, GH11J005303.

We have developed an assay that detects both point mutations and larger rearrangements of the HBB gene. This assay is quick, sensitive, specific and cost effective making it suitable as an initial screening test that can be used for highly heterogeneous cohorts.

2021年4月4日 · Variant summary: HBB c.23A>G (p.Glu8Gly) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function.