Gene Symbol | LYRM7 |
Entrez Gene ID | 90624 |
Full Name | LYR motif containing 7 |
Synonyms | C5orf31,MC3DN8,MZM1L |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial complex III deficiency, nuclear type 8, 615838 (3) |