Synonyms:AASS, ENTREZ:10157, HGNC:17366, LKR/SDH, LKRSDH, LORSDH, MIM:605113, NM_005763, NP_005754, XM_011515725, XP_011514027, XR_001744514, XR_001744515, XR_001744516, XR_001744517, XR_001744519, XR_001744520, XR_001744521, XR_001744522, XR_001744523, XR_001744524, XR_242220, XR_927326, aminoadipate-semialdehyde synthase
Omim:OMIM:605113
Id:ENSG00000008311
Hgnc:HGNC:17366
Description:aminoadipate-semialdehyde synthase
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]