GeneID: 10



Names

Common Name: β Type: Gene
Chromosome: 11 (NC_000011.10) Locus: NG_000007.3 (β-locus)
HUGO Symbol: HBB Full Name: hemoglobin subunit beta
Exons: 3 Introns: 2

Description:
HBB is a globin protein, which along with alpha globin (HBA) makes up the most common form of haemoglobin in adult humans, the HbA. It is 146 amino acids long and has a molecular weight of 15,867 Da. Normal adult human HbA is a heterotetramer consisting of two alpha chains and two beta chains (α2β2). HBB protein is produced by the β-globin gene, which is located in the multigene locus of β-globin locus on chromosome 11, specifically on the short arm position 15.5. The expression of HBB and the neighbouring globins in the β-globin locus is controlled by a single locus control region (LCR), the most important regulatory element in the locus located upstream of the globin genes. The order of the genes in the beta-globin cluster is: 5'-ε(HBE)-Gγ(HBG2)-Aγ(HBG1)-ψβ(HBBP1)-δ(HBD)-β(HBB)-3'. Several naturally occurring HBB variants have been discovered, of which HbS is the most common causing sickle-cell anaemia. Total absence of HBB causes beta-zero-thalassaemia. Reduced amounts of detectable HBB causes beta-plus-thalassaemia.

Synonyms: beta-globin , CD113t-C

Comments:
N/A

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Publications / Origin

  1. Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ, A review of the molecular genetics of the human alpha-globin gene cluster., Blood , 73(5), 1081-104, 1989 PubMed
  2. Giardina B, Messana I, Scatena R, Castagnola M, The multiple functions of hemoglobin., Crit. Rev. Biochem. Mol. Biol. , 30(3), 165-96, 1995 PubMed
  3. Levings PP, Bungert J, The human beta-globin locus control region., Eur. J. Biochem. , 269(6), 1589-99, 2002 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2016-04-28 11:18:08 (Show full history)


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