MECR

MECR
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMECR, CGI-63, FASN2B, NRBF1, mitochondrial trans-2-enoyl-CoA reductase, ETR1, DYTOABG
External IDsMGI: 1349441 HomoloGene: 5362 GeneCards: MECR
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p35.3Start29,192,873 bp[1]
End29,230,942 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

51102

26922

Ensembl

ENSG00000116353

ENSMUSG00000028910

UniProt

Q9BV79

Q9DCS3

RefSeq (mRNA)

NM_025297

RefSeq (protein)

NP_079573

Location (UCSC)Chr 1: 29.19 – 29.23 MbChr 4: 131.84 – 131.87 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

The MECR gene is located on the 19th chromosome, with its specific location being 19p13.11. 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]

MECR and Disease

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.[10]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000116353 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028910 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Masuda N, Yasumo H, Furusawa T, Tsukamoto T, Sadano H, Osumi T (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, Pirilä PL, Sormunen RT, Bergmann U, Qin YM, Hiltunen JK (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. 1 2 "Entrez Gene: MECR mitochondrial trans-2-enoyl-CoA reductase".
  8. ↑ ]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 (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).
  10. ↑ Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, 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

  • 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, Suyama A, Sugano S (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, Liu CS, Lin W (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.
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