AASS Information & AASS Links at HealthHaven.com

Aminoadipate-semialdehyde synthase
Identifiers
Symbols	AASS; LKR/SDH; LKRSDH; LORSDH
External IDs	OMIM: 605113 MGI: 1353573 HomoloGene: 4212
Gene ontology
Molecular function	• lysine-ketoglutarate reductase activity; • oxidoreductase activity; • saccharopine dehydrogenase (NADP+, L-lysine-forming) activity; • saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity;
Cellular component	• mitochondrion;
Biological process	• electron transport; • lysine catabolic process; • protein tetramerization;
RNA expression pattern
	More reference expression data
Orthologs
NP_005754 (protein)	NP_038958 (protein)

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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]

[edit] References

^ 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. PMID 10775527.
^ ^a ^b "Entrez Gene: AASS aminoadipate-semialdehyde synthase". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10157.

[edit] Further reading

Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205.
Papes F, Kemper EL, Cord-Neto G, et al. (2000). "Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse.". Biochem. J. 344 Pt 2: 555–63. PMID 10567240.
"Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999. PMID 9847074.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

This article on a gene on chromosome 7 is a stub. You can help Wikipedia by expanding it.

[pmid10775527-0] 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. PMID 10775527.

[entrez-1] "Entrez Gene: AASS aminoadipate-semialdehyde synthase". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10157.

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