Hemoglobina, alfa 2

Hemoglobina, alfa 2
Estruturas dispoñibles
PDB	Buscar ortólogos: PDBe, RCSB Lista de códigos PDB 1A00 , 1A01, 1A0U, 1A0Z, 1A3N, 1A3O, 1A9W, 1ABW, 1ABY, 1AJ9, 1B86, 1BAB, 1BBB, 1BIJ, 1BUW, 1BZ0, 1BZ1, 1BZZ, 1C7B, 1C7C, 1C7D, 1CLS, 1CMY, 1COH, 1DKE, 1DXT, 1DXU, 1DXV, 1FDH, 1FN3, 1G9V, 1GBU, 1GBV, 1GLI, 1GZX, 1HAB, 1HAC, 1HBA, 1HBB, 1HBS, 1HCO, 1HDB, 1HGA, 1HGB, 1HGC, 1HHO, 1IRD, 1J3Y, 1J3Z, 1J40, 1J41, 1J7S, 1J7W, 1J7Y, 1JY7, 1K0Y, 1K1K, 1KD2, 1LFL, 1LFQ, 1LFT, 1LFV, 1LFY, 1LFZ, 1LJW, 1M9P, 1MKO, 1NEJ, 1NIH, 1NQP, 1O1I, 1O1J, 1O1K, 1O1L, 1O1M, 1O1N, 1O1O, 1O1P, 1QI8, 1QSH, 1QSI, 1QXD, 1QXE, 1R1X, 1R1Y, 1RPS, 1RQ3, 1RQ4, 1RQA, 1RVW, 1SDK, 1SDL, 1SHR, 1SI4, 1THB, 1UIW, 1VWT, 1XXT, 1XY0, 1XYE, 1XZ2, 1XZ4, 1XZ5, 1XZ7, 1XZU, 1XZV, 1Y01, 1Y09, 1Y0A, 1Y0C, 1Y0D, 1Y0T, 1Y0W, 1Y22, 1Y2Z, 1Y31, 1Y35, 1Y45, 1Y46, 1Y4B, 1Y4F, 1Y4G, 1Y4P, 1Y4Q, 1Y4R, 1Y4V, 1Y5F, 1Y5J, 1Y5K, 1Y7C, 1Y7D, 1Y7G, 1Y7Z, 1Y83, 1Y85, 1Y8W, 1YDZ, 1YE0, 1YE1, 1YE2, 1YEN, 1YEO, 1YEQ, 1YEU, 1YEV, 1YFF, 1YG5, 1YGD, 1YGF, 1YH9, 1YHE, 1YHR, 1YIE, 1YIH, 1YVQ, 1YVT, 1YZI, 1Z8U, 2D5Z, 2D60, 2DN1, 2DN2, 2DN3, 2DXM, 2H35, 2HBC, 2HBD, 2HBE, 2HBF, 2HBS, 2HCO, 2HHD, 2HHE, 2M6Z, 2W6V, 2W72, 2YRS, 3B75, 3D17, 3D7O, 3DUT, 3HXN, 3IA3, 3IC0, 3IC2, 3KMF, 3NL7, 3NMM, 3ODQ, 3ONZ, 3OO4, 3OO5, 3OVU, 3P5Q, 3QJB, 3QJC, 3QJD, 3QJE, 3R5I, 3S48, 3S65, 3S66, 3SZK, 3WCP, 3WHM, 4FC3, 4HHB, 4IJ2, 4L7Y, 4M4A, 4M4B, 4MQC, 4MQG, 4MQH, 4MQI, 4MQJ, 4MQK, 4N7N, 4N7O, 4N7P, 4N8T, 4NI0, 4NI1, 4ROL, 4ROM, 4WJG, 4X0L, 4XS0, 6HBW, 5E29, 5E6E, 5EE4, 5HU6, 5JDO, 5KDQ, 5E83, 1Y01, 1Z8U, 1BZ1 ;
Identificadores
Nomenclatura	Outros nomes HBA2, HBA-T2, HBH, subunidade alfa 2 da hemoglobina, ECYT7 ;
Identificadores; externos	OMIM: 141850 ; MGI: 96015 ; HomoloGene: 469 ; EBI: HBA2; GeneCards: Xene HBA2; UniProt: HBA2;
Locus	Cr. 16 p13.3
Ontoloxía Xénica	Referencias: AmiGO / QuickGO
	Referencias: AmiGO / QuickGO
Ortólogos
Especies
Humano	Rato
Entrez
3040	15122
Ensembl
Véxase HS	Véxase MM
UniProt
P69905	Q91VB8
RefSeq; (ARNm)
NM_000517	NM_008218
RefSeq; (proteína) NCBI
NP_000508	NP_001077424
Localización (UCSC)
Cr. 16:; 0.17 – 0.17 Mb	Cr. 11:; 32.23 – 32.23 Mb
PubMed (Busca)
3040 ;	15122

Hemoglobina, alfa 2,^[1] tamén chamado HBA2, é un xene que nos humanos codifica a cadea de globina alfa da hemoglobina e está situado no cromosoma 16.^[2]^[3]

Función

A agrupación ou cluster de xenes da globina alfa humana está localizada no cromosoma 16 e ten unha lonxitude de 30 kb, incluíndo sete xenes da globina similares a alfa e pseudoxenes, que son: 5'-HBZ - HBZP1 - HBM - HBAP1 - HBA2 - HBA1 - HBQ1 -3'. As secuencias codificantes de HBA2 (α₂) e HBA1 (α₁) son idénticas. Estes xenes difiren lixeiramente nas rexións non traducidas 5' e nos intróns, pro diferéncianse significativamente nas rexións non traducidas 3'.

Proteína

Dúas cadeas alfa xunto con dúas cadeas beta constitúen o tetrámero HbA, que na vida adulta normal comprende un 97% da hemoglobina total; as cadeas alfa combínanse coas delta para formar a HbA2, a cal, xunto coa HbF (hemoglobina fetal) supón o 3% restante da hemoglobina adulta.

Importancia clínica

A enfermidade chamada alfa-talasemia orixínase normalmente por delecións de calquera dos catro alelos alfa, aínda que se informou que algunhas talasemias alfa son debidas a outras mutacións distintas das delecións. A deleción dun ou dous alelos é clinicamente silenciosa. A deleción de tres alelos causa a enfermidade HbH, que causa anemia e hepatoesplenomegalia. A deleción de todos os 4 alelos é letal porque fai que o corpo sexa incapaz de fabricar hemoglobina fetal (HbF), hemoglobina adulta (HbA) ou a variante de hemoglobina adulta HbA2, e isto ten como resultado hidropesía fetal.^[4]

Notas

↑ "HBA2 gene: MedlinePlus Genetics".
↑ Liebhaber SA, Goossens MJ, Kan YW (Dec 1980). "Cloning and complete nucleotide sequence of human 5'-alpha-globin gene". Proceedings of the National Academy of Sciences of the United States of America 77 (12): 7054–8. Bibcode:1980PNAS...77.7054L. PMC 350439. PMID 6452630. doi:10.1073/pnas.77.12.7054.
↑ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (abril de 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood 73 (5): 1081–104. PMID 2649166. doi:10.1182/blood.V73.5.1081.1081.
↑ "Entrez Gene: HBA2 hemoglobin, alpha 2".

Véxase tamén

Bibliografía

Richter F, Meurers BH, Zhu C, Medvedeva VP, Chesselet MF (Aug 2009). "Neurons express hemoglobin alpha- and beta-chains in rat and human brains". The Journal of Comparative Neurology 515 (5): 538–47. PMC 3123135. PMID 19479992. doi:10.1002/cne.22062.
Phylipsen M, Vogelaar IP, Schaap RA, Arkesteijn SG, Boxma GL, van Helden WC, Wildschut IC, de Bruin-Roest AC, Giordano PC, Harteveld CL (Aug 2010). "A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW))". Blood Cells, Molecules & Diseases 45 (2): 133–5. PMID 20682466. doi:10.1016/j.bcmd.2010.05.004.
Sessa R, Puzone S, Ammirabile M, Piscopo C, Pagano L, Colucci S, Izzo P, Grosso M (Feb 2010). "Identification and molecular characterization of the --CAMPANIA deletion, a novel alpha (0) -thalassemic defect, in two unrelated Italian families [corrected]". American Journal of Hematology 85 (2): 143–4. PMID 20054848. doi:10.1002/ajh.21591.
Yin XL, Zhang XH, Zhou TH, Zhang TL, Luo RG, Wang L, Zhou YL, Chen YS, Kong XJ, Liang B, He YY, Peng L, Lu LB, Fang SP, Wu ZK (2010). "Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients". Acta Haematologica 124 (2): 86–91. PMID 20639625. doi:10.1159/000314058.
Joly P, Lacan P, Bererd M, Garcia C, Zanella-Cleon I, Becchi M, Aubry M, Couprie N, Francina A (2009). "Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and one new delta variant: Hb (A2)North Africa [delta59(E3)Lys-->Met]". Hemoglobin 33 (3): 196–205. PMID 19657833. doi:10.1080/03630260903058685.
Harteveld CL, Oosterhuis WP, Schoenmakers CH, Ananta H, Kos S, Bakker Verweij M, van Delft P, Arkesteijn SG, Phylipsen M, Giordano PC (Apr 2010). "alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene". European Journal of Haematology 84 (4): 354–8. PMID 19912309. doi:10.1111/j.1600-0609.2009.01380.x.
Kapralov A, Vlasova II, Feng W, Maeda A, Walson K, Tyurin VA, Huang Z, Aneja RK, Carcillo J, Bayir H, Kagan VE (Oct 2009). "Peroxidase activity of hemoglobin-haptoglobin complexes: covalent aggregation and oxidative stress in plasma and macrophages". The Journal of Biological Chemistry 284 (44): 30395–407. PMC 2781594. PMID 19740759. doi:10.1074/jbc.M109.045567.
Roy P, Bhattacharya G, Banerjee D, Chandra S, Ghosh M, Choudhuri U, Das M, Dasgupta UB (2009). "Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC>TAC] occurs frequently on the Indian subcontinent". Hemoglobin 33 (6): 486–91. PMID 19958194. doi:10.3109/03630260903336164.
Giardina B, Messana I, Scatena R, Castagnola M (1995). "The multiple functions of hemoglobin". Critical Reviews in Biochemistry and Molecular Biology 30 (3): 165–96. PMID 7555018. doi:10.3109/10409239509085142.
Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (Apr 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood 73 (5): 1081–104. PMID 2649166. doi:10.1182/blood.V73.5.1081.1081.
Ribeiro DM, Sonati MF (2008). "Regulation of human alpha-globin gene expression and alpha-thalassemia". Genetics and Molecular Research 7 (4): 1045–53. PMID 19048483. doi:10.4238/vol7-4gmr472.
Waye JS, Eng B, Dutly F, Frischknecht H (2009). "alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T)". Hemoglobin 33 (6): 519–22. PMID 19958200. doi:10.3109/03630260903333377.
Coelho A, Picanço I, Seuanes F, Seixas MT, Faustino P (Aug 2010). "Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment" (PDF). Blood Cells, Molecules & Diseases 45 (2): 147–53. PMID 20580289. doi:10.1016/j.bcmd.2010.05.010. hdl:10400.18/117.
Sharma V, Kumar B, Kumar G, Saxena R (Oct 2009). "Alpha globin gene numbers: an important modifier of HbE/beta thalassemia". Hematology 14 (5): 297–300. PMID 19843387. doi:10.1179/102453309X446126.
Turbpaiboon C, Wilairat P (2010). "Alpha-hemoglobin stabilizing protein: molecular function and clinical correlation". Frontiers in Bioscience 15: 1–11. PMID 20036801. doi:10.2741/3601.
Voon HP, Vadolas J (Dec 2008). "Controlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia". Haematologica 93 (12): 1868–76. PMID 18768527. doi:10.3324/haematol.13490.
Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL (2010). "Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening". Hemoglobin 34 (4): 354–65. PMID 20642333. doi:10.3109/03630269.2010.486341.
Mahdavi MR, Kowsarian M, Karami H, Mohseni A, Vahidshahi K, Roshan P, Hojjati MT, Ebrahimzadeh MA (Oct 2010). "Prevalence of hemoglobin alpha-chain gene deletion in neonates in North of Iran". European Review for Medical and Pharmacological Sciences 14 (10): 871–5. PMID 21222374.
Balakrishnan G, Zhao X, Podstawska E, Proniewicz LM, Kincaid JR, Spiro TG (Apr 2009). "Subunit-selective interrogation of CO recombination in carbonmonoxy hemoglobin by isotope-edited time-resolved resonance Raman spectroscopy". Biochemistry 48 (14): 3120–6. PMC 2722936. PMID 19245215. doi:10.1021/bi802190f.
Zhu C, Yu W, Xie J, Chen L, Ding H, Shang X, Xu X (Oct 2010). "Hemoglobin H disease due to a de novo mutation at the α2-globin gene and an inherited common α-thalassemia deletion found in a Chinese boy". Blood Cells, Molecules & Diseases 45 (3): 223–6. PMID 20691621. doi:10.1016/j.bcmd.2010.07.005.

Ligazóns externas

Este artigo incorpora textos da Biblioteca Nacional de Medicina dos Estados Unidos, que están en dominio público.

[1] "HBA2 gene: MedlinePlus Genetics".

[pmid6452630-2] Liebhaber SA, Goossens MJ, Kan YW (Dec 1980). "Cloning and complete nucleotide sequence of human 5'-alpha-globin gene". Proceedings of the National Academy of Sciences of the United States of America 77 (12): 7054–8. Bibcode:1980PNAS...77.7054L. PMC 350439. PMID 6452630. doi:10.1073/pnas.77.12.7054.

[pmid2649166-3] Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (abril de 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood 73 (5): 1081–104. PMID 2649166. doi:10.1182/blood.V73.5.1081.1081.

[entrez-4] "Entrez Gene: HBA2 hemoglobin, alpha 2".

[1]

[2]

[3]

[4]