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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for AASS (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID10157
Official gene symbolAASS
Full nameaminoadipate-semialdehyde synthase
Aliases,LKR/SDH,LKRSDH,LORSDH,
Gene summaryThis 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]
LocationChromosome: 7   Locus: 7q31.3
Gene position121784344 - 121713598  Map Viewer
Gene orientationminus
Gene size70747 bp
Gene sequence
OMIM ID605113