HADHB
线粒体三功能酶β亚基（英語：Trifunctional enzyme subunit beta, mitochondrial，TP-beta）也被称为3-ketoacyl-CoA thiolase、acetyl-CoA acyltransferase或beta-ketothiolase 是一种由人类基因 HADHB 所编码的酶[5]。
结构
[编辑]HADHB基因位于2号染色体的2p23段[5]，包括17个外显子，蛋白分子量为51.2 kDa，包括474个氨基酸残基[6][7]。
功能
[编辑]参考文献
[编辑]- ^ 1.0 1.1 1.2 GRCh38: Ensembl release 89: ENSG00000138029 - Ensembl, May 2017
- ^ 2.0 2.1 2.2 GRCm38: Ensembl release 89: ENSMUSG00000059447 - Ensembl, May 2017
- ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 5.0 5.1 Entrez Gene: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein). （原始内容存档于2009-10-19）.
- ^ ]Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P. Integration of cardiac proteome biology and medicine by a specialized knowledgebase. Circulation Research. October 2013, 113 (9): 1043–53. PMC 4076475
. PMID 23965338. doi:10.1161/CIRCRESAHA.113.301151. - ^ Trifunctional enzyme subunit beta, mitochondrial. Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). [2019-07-07]. （原始内容存档于2016-03-04）.
延伸阅读
[编辑]- Wang R, Yang Z, Zhu JM; et al. [Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant].. Zhonghua Fu Chan Ke Za Zhi. 2006, 41 (10): 672–5. PMID 17199921.
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- Adams DJ, Beveridge DJ, van der Weyden L; et al. HADHB, HuR, and CP1 bind to the distal 3'-untranslated region of human renin mRNA and differentially modulate renin expression.. J. Biol. Chem. 2003, 278 (45): 44894–903. PMID 12933794. doi:10.1074/jbc.M307782200.
- Spiekerkoetter U, Khuchua Z, Yue Z; et al. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.. Pediatr. Res. 2004, 55 (2): 190–6. PMID 14630990. doi:10.1203/01.PDR.0000103931.80055.06.
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- Middleton B. The mitochondrial long-chain trifunctional enzyme: 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase and 3-oxoacyl-CoA thiolase.. Biochem. Soc. Trans. 1994, 22 (2): 427–31. PMID 7958339.
- Zhao Y, Meng XM, Wei YJ; et al. Cloning and characterization of a novel cardiac-specific kinase that interacts specifically with cardiac troponin I.. J. Mol. Med. 2003, 81 (5): 297–304. PMID 12721663. doi:10.1007/s00109-003-0427-x.
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- Hillier LW, Graves TA, Fulton RS; et al. Generation and annotation of the DNA sequences of human chromosomes 2 and 4.. Nature. 2005, 434 (7034): 724–31. PMID 15815621. doi:10.1038/nature03466.
- Spiekerkoetter U, Sun B, Khuchua Z; et al. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.. Hum. Mutat. 2003, 21 (6): 598–607. PMID 12754706. doi:10.1002/humu.10211.
- Gerhard DS, Wagner L, Feingold EA; et al. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).. Genome Res. 2004, 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- Ota T, Suzuki Y, Nishikawa T; et al. Complete sequencing and characterization of 21,243 full-length human cDNAs.. Nat. Genet. 2004, 36 (1): 40–5. PMID 14702039. doi:10.1038/ng1285.
- Fould B, Garlatti V, Neumann E; et al. Structural and functional characterization of the recombinant human mitochondrial trifunctional protein.. Biochemistry. 2010, 49 (39): 8608–17. PMID 20825197. doi:10.1021/bi100742w.
- Strausberg RL, Feingold EA, Grouse LH; et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.. Proc. Natl. Acad. Sci. U.S.A. 2002, 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Ibdah JA, Tein I, Dionisi-Vici C; et al. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.. J. Clin. Invest. 1998, 102 (6): 1193–9. PMID 9739053. doi:10.1172/JCI2091.
- Gevaert K, Goethals M, Martens L; et al. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.. Nat. Biotechnol. 2003, 21 (5): 566–9. PMID 12665801. doi:10.1038/nbt810.
- Hendrickson SL, Lautenberger JA, Chinn LW; et al. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.. PLoS ONE. 2010, 5 (9): e12862. PMC 2943476 . PMID 20877624. doi:10.1371/journal.pone.0012862.
- Frackowiak J, Mazur-Kolecka B, Kaczmarski W, Dickson D. Deposition of Alzheimer's vascular amyloid-beta is associated with decreased expression of brain L-3-hydroxyacyl-coenzyme A dehydrogenase (ERAB).. Brain Res. 2001, 907 (1-2): 44–53. PMID 11430884. doi:10.1016/S0006-8993(01)02497-0.