Aminoadipate Semialdehyde Synthase (AASS)

LKR/SDH; LKRSDH; LORSDH; Saccharopine dehydrogenase; Alpha-Aminoadipic Semialdehyde Synthase,Mitochondrial; Lysine ketoglutarate reductase

SPN	T950
HGNC	17366
MGI	1353573
PubMed	15248788
RGD	1310811
UniProt	Q9UDR5
Wiki	AASS

Alpha-aminoadipic semialdehyde synthase, mitochondrial is 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.

This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

Reference

"Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia."
Am. J. Hum. Genet. 66:1736-1743(2000) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of human chromosome 7."
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia."
Hum. Mol. Genet. 23:5009-5016(2014) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]