Aliases for HBA1 Gene
External Ids for HBA1 Gene
Previous GeneCards Identifiers for HBA1 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) 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 alpha chains plus two beta 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for HBA1 Gene
HBA1 (Hemoglobin, Alpha 1) is a Protein Coding gene. Diseases associated with HBA1 include hb bart's hydrops fetalis and alpha-thalassemia-intellectual disability syndrome linked to chromosome 16. Among its related pathways are Metabolism and Vesicle-mediated transport. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBA2.
UniProtKB/Swiss-Prot for HBA1 Gene
Involved in oxygen transport from the lung to the various peripheral tissues