HBD: Difference between revisions
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{{ | '''Hemoglobin subunit delta''' is a [[protein]] that in humans is encoded by the ''HBD'' [[gene]].<ref name="pmid2649166">{{cite journal | vauthors = Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ | title = A review of the molecular genetics of the human alpha-globin gene cluster | journal = Blood | volume = 73 | issue = 5 | pages = 1081–104 |date=May 1989 | pmid = 2649166 | pmc = | doi = }}</ref> | ||
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== Function == | |||
The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute [[Hemoglobin A|HbA]], which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute [[Hemoglobin A2|HbA2]], which with [[Fetal hemoglobin|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' - [[HBE1|epsilon]] – [[HBG2|gamma-G]] – [[HBG1|gamma-A]] – '''delta''' – [[HBB|beta]] - 3'.<ref name = "entrez"/> | |||
== Clinical significance == | |||
Mutations in the delta-globin gene are associated with [[Delta-thalassemia]].<ref name = "entrez">{{cite web | title = Entrez Gene: HBD hemoglobin, delta| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3045| accessdate = }}</ref> | |||
==See also== | ==See also== | ||
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==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
*{{cite journal |vauthors=Schillirò G, Russo-Mancuso G, Dibenedetto SP, etal |title=Six rare hemoglobin variants found in Sicily. |journal=Hemoglobin |volume=15 |issue= 5 |pages= 431–7 |year= 1992 |pmid= 1802885 |doi=10.3109/03630269108998862 }} | |||
*{{cite journal |vauthors=Collins FS, Weissman SM |title=The molecular genetics of human hemoglobin. |journal=Prog. Nucleic Acid Res. Mol. Biol. |volume=31 |issue= |pages= 315–462 |year= 1985 |pmid= 6397774 |doi= }} | |||
*{{cite journal | *{{cite journal |vauthors=Giardina B, Messana I, Scatena R, Castagnola M |title=The multiple functions of hemoglobin. |journal=Crit. Rev. Biochem. Mol. Biol. |volume=30 |issue= 3 |pages= 165–96 |year= 1995 |pmid= 7555018 |doi=10.3109/10409239509085142 }} | ||
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*{{cite journal | | |||
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{{refend}} | {{refend}} | ||
{{PDB Gallery|geneid=3045}} | |||
{{Hemeproteins}} | |||
[[Category:Hemoglobins]] | |||
{{protein-stub}} | {{protein-stub}} | ||
Latest revision as of 19:18, 29 October 2017
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Wikidata | |||||||
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Hemoglobin subunit delta is a protein that in humans is encoded by the HBD gene.[1]
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' - epsilon – gamma-G – gamma-A – delta – beta - 3'.[2]
Clinical significance
Mutations in the delta-globin gene are associated with Delta-thalassemia.[2]
See also
References
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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