HBD

HBD
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesHBD, hemoglobin subunit delta
External IDsOMIM: 142000 HomoloGene: 128037 GeneCards: HBD
Orthologs
SpeciesHumanMouse
Entrez

3045

n/a

Ensembl

ENSG00000223609

n/a

UniProt

P02042

n/a

RefSeq (mRNA)

NM_000519

n/a

RefSeq (protein)

NP_000510

n/a

Location (UCSC)Chr 11: 5.23 – 5.24 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Hemoglobin subunit delta is a protein that in humans is encoded by the HBD gene.[3]

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'.[4]

Clinical significance

Mutations in the delta-globin gene are associated with Delta-thalassemia.[4]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000223609 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. 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. doi:10.1182/blood.V73.5.1081.1081. PMID 2649166.
  4. 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. Progress in Nucleic Acid Research and Molecular Biology. 31: 315–462. doi:10.1016/s0079-6603(08)60382-7. ISBN 9780125400312. 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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