Gene Symbol | SDHAF1 |
Entrez Gene ID | 644096 |
Full Name | succinate dehydrogenase complex assembly factor 1 |
Synonyms | LYRM8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial complex II deficiency, 252011 (3) |