Alpha-aminoadipic semialdehyde synthase, mitochondrial

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Aminoadipate-semialdehyde synthase
External IDs OMIM605113 MGI1353573 HomoloGene4212 GeneCards: AASS Gene
EC number,
RNA expression pattern
PBB GE AASS 210852 s at tn.png
PBB GE AASS 214829 at tn.png
More reference expression data
Species Human Mouse
Entrez 10157 30956
Ensembl ENSG00000008311 ENSMUSG00000029695
UniProt Q9UDR5 Q99K67
RefSeq (mRNA) NM_005763 NM_013930
RefSeq (protein) NP_005754 NP_038958
Location (UCSC) Chr 7:
121.72 – 121.78 Mb
Chr 6:
23.07 – 23.13 Mb
PubMed search [1] [2]

Alpha-aminoadipic semialdehyde synthase, mitochondrial is an enzyme that in humans is encoded by the AASS gene.[1][2]


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.[2]


  1. ^ Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT (Jan 2001). "Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia". Am J Hum Genet 66 (6): 1736–43. doi:10.1086/302919. PMC 1378037. PMID 10775527. 
  2. ^ a b "Entrez Gene: AASS aminoadipate-semialdehyde synthase". 

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