The HBB gene homepage
| General information |
| Gene symbol |
HBB |
| Gene name |
hemoglobin subunit beta |
| Chromosome |
11 |
| Chromosomal band |
p15.4 |
| Imprinted |
Unknown |
| Genomic reference |
NG_000007.3 |
| Transcript reference |
NM_000518.4 |
| Associated with diseases |
abnormal hemoglobin, beta-thal, HPFH, WD |
| Citation reference(s) |
- |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
174 |
| Unique public DNA variants reported |
131 |
| Individuals with public variants |
2027 |
| Hidden variants |
- |
| Notes |
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. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
Also known as CD113t-C; beta-globin |
| Date created |
December 16, 2017 |
| Date last updated |
April 25, 2019 |
| Version |
HBB:190425 |
Active transcripts
| Copyright & disclaimer |
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. |
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