ME2 (gene)
ME2 | |||
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Gene ontology | |||
Molecular function | |||
Cellular component | |||
Biological process | |||
Sources:Amigo / QuickGO |
Ensembl |
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UniProt | |||||||||
RefSeq (mRNA) | |||||||||
RefSeq (protein) | |||||||||
Location (UCSC) | Chr 18: 50.88 – 50.95 Mb | n/a | |||||||
PubMed search | [2] | [3] |
View/Edit Human | View/Edit Mouse |
NAD-dependent malic enzyme, mitochondrial is a protein that in humans is encoded by the ME2 gene.[4][5] This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the
Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene.[5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000082212 – 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.
- PMID 1993674.
- ^ a b "Entrez Gene: ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial".
Further reading
- Siebert G, Ritter H, Kömpf J (1980). "Mitochondrial malic enzyme (E.C.1.1.1.40) in human leukocytes: formal genetics and population genetics". Hum. Genet. 51 (3): 319–22. S2CID 28855152.
- Saha N, Jeremiah SJ, Povey S (1978). "Further data on mitochondrial malic enzyme in man". Hum. Hered. 28 (6): 421–5. PMID 680703.
- Taroni F, Gellera C, Di Donato S (1988). "Evidence for two distinct mitochondrial malic enzymes in human skeletal muscle: purification and properties of the NAD(P)+-dependent enzyme". Biochim. Biophys. Acta. 916 (3): 446–54. PMID 3689803.
- Bukato G, Kochan Z, Swierczyński J (1996). "Different regulatory properties of the cytosolic and mitochondrial forms of malic enzyme isolated from human brain". Int. J. Biochem. Cell Biol. 27 (10): 1003–8. PMID 7496989.
- Bukato G, Kochan Z, Swierczyński J (1995). "Purification and properties of cytosolic and mitochondrial malic enzyme isolated from human brain". Int. J. Biochem. Cell Biol. 27 (1): 47–54. PMID 7757881.
- Xu Y, Bhargava G, Wu H, et al. (1999). "Crystal structure of human mitochondrial NAD(P)+-dependent malic enzyme: a new class of oxidative decarboxylases". Structure. 7 (8): R877–89. PMID 10477256.
- Yang Z, Floyd DL, Loeber G, Tong L (2000). "Structure of a closed form of human malic enzyme and implications for catalytic mechanism". Nat. Struct. Biol. 7 (3): 251–7. S2CID 23469024.
- Yang Z, Batra R, Floyd DL, et al. (2000). "Potent and competitive inhibition of malic enzymes by lanthanide ions". Biochem. Biophys. Res. Commun. 274 (2): 440–4. PMID 10913357.
- Butta N, González-Manchón C, Arias-Salgado EG, et al. (2001). "Cloning and functional characterization of the 5' flanking region of the human mitochondrial malic enzyme gene. Regulatory role of Sp1 and AP-2". Eur. J. Biochem. 268 (10): 3017–27. PMID 11358520.
- Yanaihara N, Kohno T, Takakura S, et al. (2001). "Physical and transcriptional map of a 311-kb segment of chromosome 18q21, a candidate lung tumor suppressor locus". Genomics. 72 (2): 169–79. PMID 11401430.
- Yang Z, Lanks CW, Tong L (2002). "Molecular mechanism for the regulation of human mitochondrial NAD(P)+-dependent malic enzyme by ATP and fumarate". Structure. 10 (7): 951–60. PMID 12121650.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. S2CID 23783563.
- Tao X, Yang Z, Tong L (2004). "Crystal structures of substrate complexes of malic enzyme and insights into the catalytic mechanism". Structure. 11 (9): 1141–50. PMID 12962632.
- Navarro-Lérida I, Martínez Moreno M, Roncal F, et al. (2004). "Proteomic identification of brain proteins that interact with dynein light chain LC8". Proteomics. 4 (2): 339–46. S2CID 8868600.
- Greenberg DA, Cayanis E, Strug L, et al. (2005). "Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy". Am. J. Hum. Genet. 76 (1): 139–46. PMID 15532013.
- Hung HC, Chien YC, Hsieh JY, et al. (2005). "Functional roles of ATP-binding residues in the catalytic site of human mitochondrial NAD(P)+-dependent malic enzyme". Biochemistry. 44 (38): 12737–45. PMID 16171388.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. PMID 16344560.