RecName: Full=Alpha-aminoadipic semialdehyde synthase, mitochondrial; - Protein

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Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1. [Open Biol. 2022]
Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1.
Leandro J, Khamrui S, Suebsuwong C, Chen PJ, Secor C, Dodatko T, Yu C, Sanchez R, DeVita RJ, Houten SM, et al. Open Biol. 2022 Sep; 12(9):220179. Epub 2022 Sep 21.
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. [Mol Genet Metab. 2013]
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.
Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, et al. Mol Genet Metab. 2013 Nov; 110(3):231-6. Epub 2013 Jul 6.
HYPERLYSINEMIA. [Am J Dis Child. 1964]
HYPERLYSINEMIA.
WOODY NC. Am J Dis Child. 1964 Nov; 108:543-53.

RefSeq genomic sequence
See the genomic reference sequence for the AASS gene (NG_008140.2).
RefSeq protein isoforms
See 7 reference sequence protein isoforms for the AASS gene.

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Q9UDR5 [Domain Mapping of Disease Mut...]
Q9UDR5
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Alpha-aminoadipic semialdehyde synthase, mitochondrial; AltName: F...
RecName: Full=Alpha-aminoadipic semialdehyde synthase, mitochondrial; AltName: Full=LKR/SDH; Includes: RecName: Full=Lysine ketoglutarate reductase; Short=LKR; Short=LOR; Includes: RecName: Full=Saccharopine dehydrogenase; Short=SDH; Flags: Precursor
gi|46396032|sp|Q9UDR5.1|AASS_HUMAN

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