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Gene Review

AASS  -  aminoadipate-semialdehyde synthase

Homo sapiens

Synonyms: Alpha-aminoadipic semialdehyde synthase, mitochondrial, LKR/SDH, LKRSDH, LORSDH
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Disease relevance of AASS

  • On the basis of these and other results, we propose that AASS catalyzes the first two steps of the major lysine-degradation pathway in human cells and that inactivating mutations in the AASS gene are a cause of hyperlysinemia [1].

High impact information on AASS


  1. Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Sacksteder, K.A., Biery, B.J., Morrell, J.C., Goodman, B.K., Geisbrecht, B.V., Cox, R.P., Gould, S.J., Geraghty, M.T. Am. J. Hum. Genet. (2000) [Pubmed]
  2. Four consecutive serines in the third intracellular loop are the sites for beta-adrenergic receptor kinase-mediated phosphorylation and desensitization of the alpha 2A-adrenergic receptor. Eason, M.G., Moreira, S.P., Liggett, S.B. J. Biol. Chem. (1995) [Pubmed]
  3. Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene. Praphanphoj, V., Sacksteder, K.A., Gould, S.J., Thomas, G.H., Geraghty, M.T. Mol. Genet. Metab. (2001) [Pubmed]
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