MECR
| MECR | |||
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Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) |
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| RefSeq (protein) |
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| Location (UCSC) | Chr 1: 29.19 – 29.23 Mb | Chr 4: 131.57 – 131.6 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/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 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
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
Clinical significance
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
- ^ 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.
- PMID 9795230.
- PMID 12654921.
- ^ a b c "Entrez Gene: MECR mitochondrial trans-2-enoyl-CoA reductase".
- PMID 23965338.
- ^ "Mitochondrial trans-2-enoyl-CoA reductase". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).[permanent dead link]
- PMID 30352195.
- PMID 30266742.
- PMID 27817865.
Further reading
- 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. 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. 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. 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. PMID 10810093.
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