Biology:HBD

From HandWiki
Short description: Mammalian protein found in Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Hemoglobin subunit delta is a protein that in humans is encoded by the HBD gene.[1]

Function

The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilongamma-Ggamma-Adeltabeta - 3'.[2]

Clinical significance

Mutations in the delta-globin gene are associated with Delta-thalassemia.[2]

See also

References

  1. "A review of the molecular genetics of the human alpha-globin gene cluster". Blood 73 (5): 1081–104. May 1989. doi:10.1182/blood.V73.5.1081.1081. PMID 2649166. 
  2. 2.0 2.1 "Entrez Gene: HBD hemoglobin, delta". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3045. 

Further reading