HBD

HBD
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
Aliases HBD
External IDs HomoloGene: 128037 GeneCards: HBD
Orthologs
Species Human Mouse
Entrez

3045

n/a

Ensembl

ENSG00000223609

n/a

UniProt

P02042

n/a

RefSeq (mRNA)

NM_000519

n/a

RefSeq (protein)

NP_000510.1

n/a

Location (UCSC) Chr 11: 5.23 – 5.24 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

Hemoglobin subunit delta is a protein that in humans is encoded by the HBD gene.[2]

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'.[3]

Clinical significance

Mutations in the delta-globin gene are associated with Delta-thalassemia.[3]

See also

References

  1. "Human PubMed Reference:".
  2. 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.
  3. 1 2 "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. 


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