Английская Википедия:Hemoglobin subunit alpha
Шаблон:Cs1 config Шаблон:Short description Шаблон:Infobox gene Hemoglobin subunit alpha, Hemoglobin, alpha 1,[1] is a hemoglobin protein that in humans is encoded by the HBA1 gene.[2]
Gene
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1; this gene) 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.[2]
Protein
Two alpha chains plus two beta chains constitute HbA, which in normal adult life accounts for about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with fetal hemoglobin (HbF), composed of alpha and gamma chains, make up the remaining 3% of adult hemoglobin.[2]
Clinical significance
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.[2]
Interactions
Hemoglobin subunit alpha has been shown to interact with hemoglobin subunit beta (HBB).[3][4]
See also
References
Further reading
- Шаблон:Cite journal
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- Шаблон:Cite journal
- Шаблон:Cite journal
- Шаблон:Cite journal
External links
- GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia
- OMIM entries on Alpha-Thalassemia
- Шаблон:PDBe-KB2
Шаблон:PDB Gallery Шаблон:Hemeproteins