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MT000755

UniProt Annotations

Entry Information

Gene Name	aminoadipate-semialdehyde synthase
Protein Entry	AASS_HUMAN
UniProt ID	Q9UDR5
Species	Human

Comments

Comment type	Description
Catalytic Activity	N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD(+) + H(2)O = L-glutamate + (S)-2-amino-6-oxohexanoate + NADH.
Catalytic Activity	N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NADP(+) + H(2)O = L-lysine + 2-oxoglutarate + NADPH.
Disease	Hyperlysinemia, 1 (HYPLYS1) [MIM:238700]: An autosomal recessive metabolic condition with variable clinical features. Some patients present with non-specific seizures, hypotonia, or mildly delayed psychomotor development, and increased serum lysine and pipecolic acid on laboratory analysis. However, about half of the probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant. {ECO:0000269\|PubMed:10775527}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively.
Induction	Induced by starvation. {ECO:0000250}.
Pathway	Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 1/6.
Pathway	Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 2/6.
Similarity	In the C-terminal section; belongs to the saccharopine dehydrogenase family. {ECO:0000305}.
Similarity	In the N-terminal section; belongs to the AlaDH/PNT family. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000250}.
Subunit	Homodimer. {ECO:0000250}.
Tissue Specificity	Expressed in all 16 tissues examined with highest expression in the liver.