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Contents

   



(Top)
 


1 Function  





2 Clinical significance  





3 See also  





4 References  





5 Further reading  














HBD






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From Wikipedia, the free encyclopedia
 


HBD
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesHBD, hemoglobin subunit delta
External IDsOMIM: 142000; HomoloGene: 128037; GeneCards: HBD; OMA:HBD - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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[edit]

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[edit]

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

See also[edit]

References[edit]

  • ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  • ^ 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.
  • ^ a b "Entrez Gene: HBD hemoglobin, delta".
  • Further reading[edit]

  • 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.

  • t
  • e

  • Retrieved from "https://en.wikipedia.org/w/index.php?title=HBD&oldid=1117035652"

    Categories: 
    Genes on human chromosome 11
    Hemoglobins
    Protein stubs
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    This page was last edited on 19 October 2022, at 16:04 (UTC).

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