Gene Symbol | ACO2 |
Entrez Gene ID | 50 |
Full Name | aconitase 2 |
Synonyms | ACONM,HEL-S-284,ICRD,OCA8,OPA9 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Infantile cerebellar-retinal degeneration, 614559 (3); ?Optic atrophy 9, 616289 (3) |