HBB

(Hemoglobin , beta )

 

  • Alias                                 (According to NCBI)

 

  • beta-globin 
  • hemoglobin
  • beta globin chain 
  • beta globin mutant
  • hemoglobin beta chain 
  • hemoglobin, beta 
  • Hemoglobin beta chain.
  • 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'.
     
  • Location: 11p15.5
  • Orientation: minus strand
  • Size:1606 bp
  • 3 exons
  • DNA sequence (Human): NC_000011.

 

       

  •         CGH (11p15.5):  Losses (%) -11.7   Gain (%)  2.2   

  • Mutations and SNPs (According to HGMD and SNP)

 

  • m-RNA                       (According to NCBI and CGAP)

 

  •           mRNA sequence (Human): NM_000518

  • ·         Size: 626 bp  

  • ·         CDNA libraries: HBB

  • Size: 146amino acids; 15867 Da
  • Catalytic activity:

·  Subcellular location: intracellular, cytoplasm

·  Protein domains:

 

 

  

                                                  

  • Pathways and interactions (According to BioCarta, DIP)
  • Pathway:

                       Hemoglobin's Chaperone

  • Protein interactions:

 

  • Clinical                            (According to OMIM, PubMed)