Aliases for HBB Gene
External Ids for HBB Gene
Previous GeneCards Identifiers for HBB Gene
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
GeneCards Summary for HBB Gene
HBB (Hemoglobin Subunit Beta) is a Protein Coding gene. Diseases associated with HBB include Beta-Thalassemia and Sickle Cell Anemia. Among its related pathways are Folate Metabolism and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBD.
UniProtKB/Swiss-Prot Summary for HBB Gene
Involved in oxygen transport from the lung to the various peripheral tissues.
LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.
[Spinorphin]: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation.