Gene Symbol | AASS |
Entrez Gene ID | 10157 |
Full Name | aminoadipate-semialdehyde synthase |
Synonyms | LKR/SDH,LKRSDH,LORSDH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Hyperlysinemia, 238700 (3); Saccharopinuria, 268700 (1) |