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Gene Review:

AASS - aminoadipate-semialdehyde synthase

Homo sapiens

Synonyms: Alpha-aminoadipic semialdehyde synthase, mitochondrial, LKR/SDH, LKRSDH, LORSDH

Sacksteder, K.A. et al., Praphanphoj, V. et al., Eason, M.G. et al.

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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

This bifunctional protein has previously been referred to as "alpha-aminoadipic semialdehyde synthase," and we have tentatively designated this gene "AASS." The AASS cDNA contains an open reading frame of 2,781 bp predicted to encode a 927-amino-acid-long protein [1].
Mutant receptors that retained two of the original serines (AASS and SSAA) underwent agonist-promoted phosphorylation of 55 +/- 7% and 57 +/- 8% of the phosphorylation found for wild type alpha 2C10 [2].
In mammals, L-lysine is first catabolized to alpha-aminoadipate semialdehyde by the bifunctional enzyme alpha-aminoadipate semialdehyde synthase (AASS), followed by a conversion to alpha-aminoadipate by alpha-aminoadipate semialdehyde dehydrogenase [3].

References

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]
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]
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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AgaP_AGAP008632	Anopheles gambiae str. PEST
AT4G33150	Arabidopsis thaliana
AASS	Bos taurus
CELE_R02D3.1	Caenorhabditis elegans
AASS	Canis lupus familiaris
aass	Danio rerio
LKR	Drosophila melanogaster
AASS	Gallus gallus
KLLA0C18744g	Kluyveromyces lactis NRRL Y-1140
AASS	Macaca mulatta
MGG_17041	Magnaporthe oryzae 70-15
Aass	Mus musculus
NCU03748	Neurospora crassa OR74A
Os02g0783700	Oryza sativa Japonica Group
AASS	Pan troglodytes
Aass	Rattus norvegicus
LYS9	Saccharomyces cerevisiae S288c
SPBC3B8.03	Schizosaccharomyces pombe 972h-
aass	Xenopus (Silurana) tropicalis

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