Gene Symbol | MECR |
Entrez Gene ID | 51102 |
Full Name | mitochondrial trans-2-enoyl-CoA reductase |
Synonyms | CGI-63,DYTOABG,ETR1,FASN2B,NRBF1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]. |
Disorder MIM: | |
Disorder Html: | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3) |