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

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

Function

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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

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

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000223609Ensembl, 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. ^ a b "Entrez Gene: HBD hemoglobin, delta".

Further reading

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