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MECR

From Wikipedia, the free encyclopedia

MECR
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMECR, CGI-63, FASN2B, NRBF1, mitochondrial trans-2-enoyl-CoA reductase, ETR1, DYTOABG
External IDsOMIM: 608205; MGI: 1349441; HomoloGene: 5362; GeneCards: MECR; OMA:MECR - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_025297

RefSeq (protein)

NP_079573

Location (UCSC)Chr 1: 29.19 – 29.23 MbChr 4: 131.57 – 131.6 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Trans-2-enoyl-CoA reductase, mitochondrial is an enzyme that in humans is encoded by the MECR gene.[5][6][7]

Structure

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The 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

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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]

A Purkinje cell specific knock out of the Mecr gene in mice leads to neurodegeneration.[11]

Clinical significance

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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]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000116353Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028910Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b c "Entrez Gene: MECR mitochondrial trans-2-enoyl-CoA reductase".
  8. ^ ]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.
  9. ^ "Mitochondrial trans-2-enoyl-CoA reductase". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).[permanent dead link]
  10. ^ 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.
  11. ^ 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.
  12. ^ 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. PMC 5142118. PMID 27817865.

Further reading

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