HBD

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Hemoglobin, delta
Protein HBD PDB 1a00.png
PDB rendering based on 1a00.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbol HBD
External IDs OMIM142000 MGI96021 HomoloGene128037 GeneCards: HBD Gene
Orthologs
Species Human Mouse
Entrez 3045 15129
Ensembl ENSG00000223609 ENSMUSG00000073940
UniProt P02042 P02088
RefSeq (mRNA) NM_000519 n/a
RefSeq (protein) NP_000510 n/a
Location (UCSC) Chr 11:
5.25 – 5.26 Mb
Chr 7:
110.96 – 110.96 Mb
PubMed search [1] [2]

Hemoglobin subunit delta is a protein that in humans is encoded by the HBD gene.[1]

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 HbA-2, 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'.[2]

Clinical significance[edit]

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

See also[edit]

References[edit]

  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. ^ a b "Entrez Gene: HBD hemoglobin, delta". 

Further reading[edit]

  • 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.