HBD

Jump to navigation Jump to search
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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' - epsilon – gamma-G – gamma-A – delta – beta - 3'.[2]

Clinical significance

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

See also

References

  1. ↑ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (May 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081–104. PMID 2649166.
  2. ↑ 2.0 2.1 "Entrez Gene: HBD hemoglobin, delta".

Further reading

  • Schillirò G, Russo-Mancuso G, Dibenedetto SP, et al. (1992). "Six rare hemoglobin variants found in Sicily". Hemoglobin. 15 (5): 431–7. doi:10.3109/03630269108998862. PMID 1802885.
  • Collins FS, Weissman SM (1985). "The molecular genetics of human hemoglobin". Prog. Nucleic Acid Res. Mol. Biol. 31: 315–462. PMID 6397774.
  • Giardina B, Messana I, Scatena R, Castagnola M (1995). "The multiple functions of hemoglobin". Crit. Rev. Biochem. Mol. Biol. 30 (3): 165–96. doi:10.3109/10409239509085142. PMID 7555018.


Retrieved from "https://www.wikidoc.org/index.php?title=HBD&oldid=1414781"