Entrez gene ID | | 10157 |
Official gene symbol | | AASS |
Full name | | aminoadipate-semialdehyde synthase |
Aliases | | ,LKR/SDH,LKRSDH,LORSDH, |
Gene 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] |
Location | | Chromosome: 7 Locus: 7q31.3 |
Gene position | | 121784344 - 121713598 Map Viewer |
Gene orientation | | minus |
Gene size | | 70747 bp |
Gene sequence |
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OMIM ID | | 605113 |
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