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hemoglobin, alpha 2
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| Identifiers | |
| Symbol | HBA2 |
| Entrez | 3040 |
| HUGO | 4824 |
| OMIM | 141850 |
| RefSeq | NM_000517 |
| UniProt | P69905 |
| Other data | |
| Locus | Chr. 16 p13.3 |
Hemoglobin, alpha 2 also known as HBA2 is a protein which in humans is encoded by the HBA2 gene.[1][2]
Function
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- ζ - pseudo ζ - μ - pseudo α1 -α2 -α1 - θ3'. The α2 (HBA2) and α1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two α-chains plus two-β chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported.[3]
References
- ^ Liebhaber SA, Goossens MJ, Kan YW (December 1980). "Cloning and complete nucleotide sequence of human 5'-alpha-globin gene". Proc. Natl. Acad. Sci. U.S.A. 77 (12): 7054–8. PMID 6452630.
- ^ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (April 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood 73 (5): 1081–104. PMID 2649166. http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=2649166.
- ^ "Entrez Gene: HBA2 hemoglobin, alpha 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3040.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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