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HBB@ beta globin region [ Homo sapiens (human) ]

Gene ID: 64162, discontinued on 11-Apr-2012
  • This record was discontinued.

Summary

Gene symbol
HBB@
Gene description
beta globin region
Gene type
other
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The human beta globin gene cluster located on chromosome 11 spans about 45 kb and includes 5 functional genes and 1 pseudogene. The order of genes is: 5'- epsilon, gamma G, gamma A, beta 1 pseudogene, delta, beta -3'. These beta-like genes have the same overall exonic structure, leading to the conclusion that they are derived from one ancestral gene. The epsilon and the 2 gamma globin genes are expressed in early embryonic and fetal erythroid tissues, while delta and beta globin genes are expressed in adult life. Two epsilon chains combine with two zeta chains to constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Two gamma chains combine with two alpha chains to make fetal hemoglobin HbF. And, two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Sickle cell anemia and beta thalassemia result from mutation and absence, respectively, of beta globin chain. [provided by RefSeq, Jul 2008]
Annotation information
Annotation category: not annotated on reference assembly

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

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