AASS, Official Symbol AASSprovided by HGNC Official Full Name aminoadipate-semialdehyde synthaseprovided by HGNC Primary source HGNC:HGNC:17366 See related Ensembl:ENSG00000008311 MIM:605113; AllianceGenome:HGNC:17366 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LKRSDH; LORSDH; LKR/SDH 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] Expression Ubiquitous expression in ovary (RPKM 13.5), liver (RPKM 12.5) and 24 other tissues See more Orthologs mouse all