The mtFAS pathway is essential for producing octanoic acid that is used to synthesize lipoic acid, which is essential for aerobic metabolism. The protein encoded by MECR is an oxidoreductase that catalyzes the last step in mtFAS.[10]
Genetic mutations to MECR have been suggested to cause MEPAN Syndrome, a neurometabolic disorder in humans that involves disruptions in the pathway involved in mitochondrial fatty acid synthesis (mtFAS). MEPAN patients were found to harbor recessive mutations in MECR, and typically present with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI.[12]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000116353 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000028910 – 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.
^Masuda N, Yasumo H, Furusawa T, et al. (October 1998). "Nuclear receptor binding factor-1 (NRBF-1), a protein interacting with a wide spectrum of nuclear hormone receptors". Gene. 221 (2): 225–33. doi:10.1016/S0378-1119(98)00461-2. PMID 9795230.
^Miinalainen IJ, Chen ZJ, Torkko JM, et al. (May 2003). "Characterization of 2-enoyl thioester reductase from mammals. An ortholog of YBR026p/MRF1'p of the yeast mitochondrial fatty acid synthesis type II". The Journal of Biological Chemistry. 278 (22): 20154–61. doi:10.1074/jbc.M302851200. PMID 12654921.
^]Zong NC, Li H, Li H, et al. (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC4076475. PMID 23965338.
^"Mitochondrial trans-2-enoyl-CoA reductase". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).[permanent dead link]
^Nowinski SM, Van Vranken JG, Dove KK, et al. (October 2018). "Impact of Mitochondrial Fatty Acid Synthesis on Mitochondrial Biogenesis". Current Biology. 28 (20): R1212–R1219. Bibcode:2018CBio...28R1212N. doi:10.1016/j.cub.2018.08.022. PMC6258005. PMID 30352195.
^Nair RR, Koivisto H, Jokivarsi K, et al. (November 2018). "Impaired Mitochondrial Fatty Acid Synthesis Leads to Neurodegeneration in Mice". The Journal of Neuroscience. 38 (45): 9781–9800. doi:10.1523/JNEUROSCI.3514-17.2018. PMC6595986. PMID 30266742.
^Heimer G, Kerätär JM, Riley LG, et al. (December 2016). "MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder". American Journal of Human Genetics. 99 (6): 1229–1244. doi:10.1016/j.ajhg.2016.09.021. PMC5142118. PMID 27817865.
Further readingedit
Torkko JM, Koivuranta KT, Miinalainen IJ, et al. (September 2001). "Candida tropicalis Etr1p and Saccharomyces cerevisiae Ybr026p (Mrf1'p), 2-enoyl thioester reductases essential for mitochondrial respiratory competence". Molecular and Cellular Biology. 21 (18): 6243–53. doi:10.1128/MCB.21.18.6243-6253.2001. PMC87346. PMID 11509667.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Lai CH, Chou CY, Ch'ang LY, et al. (May 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC310876. PMID 10810093.
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.
mecr, trans, enoyl, reductase, mitochondrial, enzyme, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes1zsy, 2vcyidentifiersaliases, fasn2b, nrbf1, mitochondrial, trans, enoyl, reductase, etr1, dytoabgexternal, idsomi. Trans 2 enoyl CoA reductase mitochondrial is an enzyme that in humans is encoded by the MECR gene 5 6 7 MECRAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes1ZSY 2VCYIdentifiersAliasesMECR CGI 63 FASN2B NRBF1 mitochondrial trans 2 enoyl CoA reductase ETR1 DYTOABGExternal IDsOMIM 608205 MGI 1349441 HomoloGene 5362 GeneCards MECRGene location Human Chr Chromosome 1 human 1 Band1p35 3Start29 192 657 bp 1 End29 230 942 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 4 D2 3Start131 570 781 bp 2 End131 595 097 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed ingastrocnemius muscleprefrontal cortexleft ventricleright adrenal glandleft adrenal glandright lobe of livernucleus accumbensskin of abdomenamygdalaminor salivary glandsTop expressed inbrown adipose tissuelensproximal tubulelipepithelium of stomachleft colonPaneth cellwhite adipose tissuemorulaleft lobe of liverMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionoxidoreductase activity trans 2 enoyl CoA reductase NADPH activityCellular componentcytoplasm mitochondrion nucleus mitochondrial matrixBiological processfatty acid biosynthetic process lipid metabolism fatty acid metabolic process fatty acid beta oxidationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5110226922EnsemblENSG00000116353ENSMUSG00000028910UniProtQ9BV79Q9DCS3RefSeq mRNA NM 001024732NM 016011NM 001349711NM 001349712NM 001349713NM 001349714NM 001349715NM 001349716NM 001349717NM 025297RefSeq protein NP 001019903NP 057095NP 001336640NP 001336641NP 001336642NP 001336643NP 001336644NP 001336645NP 001336646NP 079573Location UCSC Chr 1 29 19 29 23 MbChr 4 131 57 131 6 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Structure 2 Function 3 Clinical significance 4 References 5 Further readingStructure editThe MECR gene is located on the 1st chromosome with its specific location being 1p35 3 7 The gene contains 15 exons 7 MECR encodes a 21 2 kDa protein that is composed of 189 amino acids 10 peptides have been observed through mass spectrometry data 8 9 Function editThe mtFAS pathway is essential for producing octanoic acid that is used to synthesize lipoic acid which is essential for aerobic metabolism The protein encoded by MECR is an oxidoreductase that catalyzes the last step in mtFAS 10 A Purkinje cell specific knock out of the Mecr gene in mice leads to neurodegeneration 11 Clinical significance editGenetic mutations to MECR have been suggested to cause MEPAN Syndrome a neurometabolic disorder in humans that involves disruptions in the pathway involved in mitochondrial fatty acid synthesis mtFAS MEPAN patients were found to harbor recessive mutations in MECR and typically present with childhood onset dystonia optic atrophy and basal ganglia signal abnormalities on MRI 12 References edit a b c GRCh38 Ensembl release 89 ENSG00000116353 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000028910 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 Masuda N Yasumo H Furusawa T et al October 1998 Nuclear receptor binding factor 1 NRBF 1 a protein interacting with a wide spectrum of nuclear hormone receptors Gene 221 2 225 33 doi 10 1016 S0378 1119 98 00461 2 PMID 9795230 Miinalainen IJ Chen ZJ Torkko JM et al May 2003 Characterization of 2 enoyl thioester reductase from mammals An ortholog of YBR026p MRF1 p of the yeast mitochondrial fatty acid synthesis type II The Journal of Biological Chemistry 278 22 20154 61 doi 10 1074 jbc M302851200 PMID 12654921 a b c Entrez Gene MECR mitochondrial trans 2 enoyl CoA reductase Zong NC Li H Li H et al October 2013 Integration of cardiac proteome biology and medicine by a specialized knowledgebase Circulation Research 113 9 1043 53 doi 10 1161 CIRCRESAHA 113 301151 PMC 4076475 PMID 23965338 Mitochondrial trans 2 enoyl CoA reductase Cardiac Organellar Protein Atlas Knowledgebase COPaKB permanent dead link Nowinski SM Van Vranken JG Dove KK et al October 2018 Impact of Mitochondrial Fatty Acid Synthesis on Mitochondrial Biogenesis Current Biology 28 20 R1212 R1219 Bibcode 2018CBio 28R1212N doi 10 1016 j cub 2018 08 022 PMC 6258005 PMID 30352195 Nair RR Koivisto H Jokivarsi K et al November 2018 Impaired Mitochondrial Fatty Acid Synthesis Leads to Neurodegeneration in Mice The Journal of Neuroscience 38 45 9781 9800 doi 10 1523 JNEUROSCI 3514 17 2018 PMC 6595986 PMID 30266742 Heimer G Keratar JM Riley LG et al December 2016 MECR Mutations Cause Childhood Onset Dystonia and Optic Atrophy a Mitochondrial Fatty Acid Synthesis Disorder American Journal of Human Genetics 99 6 1229 1244 doi 10 1016 j ajhg 2016 09 021 PMC 5142118 PMID 27817865 Further reading editTorkko JM Koivuranta KT Miinalainen IJ et al September 2001 Candida tropicalis Etr1p and Saccharomyces cerevisiae Ybr026p Mrf1 p 2 enoyl thioester reductases essential for mitochondrial respiratory competence Molecular and Cellular Biology 21 18 6243 53 doi 10 1128 MCB 21 18 6243 6253 2001 PMC 87346 PMID 11509667 Maruyama K Sugano S January 1994 Oligo capping a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides Gene 138 1 2 171 4 doi 10 1016 0378 1119 94 90802 8 PMID 8125298 Suzuki Y Yoshitomo Nakagawa K Maruyama K et al October 1997 Construction and characterization of a full length enriched and a 5 end enriched cDNA library Gene 200 1 2 149 56 doi 10 1016 S0378 1119 97 00411 3 PMID 9373149 Lai CH Chou CY Ch ang LY et al May 2000 Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics Genome Research 10 5 703 13 doi 10 1101 gr 10 5 703 PMC 310876 PMID 10810093 nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from 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