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Rabbit Anti-AASS/FITC Conjugated antibody
background:
Alpha-aminoadipic semialdehyde synthase (AASS), also designated lysine ketoglutarate reductase (LKR) or saccharopine dehydrogenase (SDH), is a 926 amino acid protein that exists as a homodimer in the mitochondria. AASS acts as a bifunctional enzyme containing the lysine alpha-ketoglutarate reductase (LKR) and saccharopine dehydrogenase activities that catalyzes the first two steps in lysine degradation. It is widely expressed with highest expression in liver and transcription of the AASS gene is induced upon starvation. Mutations in the gene encoding AASS result in various forms familial hyperlysinemias (FH), autosomal recessive disorders characterized by hyperlysinemia, lysinuria, and variable saccharopinuria. However, no adverse mental or physical effects have been found in patients with hyperlysinemia.
Function:
Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the SLCterminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively.
Subunit:
Homodimer
Subcellular Location:
Mitochondrial
Tissue Specificity:
Expressed in all 16 tissues examined with highest expression in the liver.
DISEASE:
Defects in AASS are the cause of hyperlysinemia (HYPLYS) [MIM:238700]. Hyperlysinemia is an autosomal recessive condition characterized by hyperlysinemia lysinuria and variable saccharopinuria.
Similarity:
In the N-terminal section; belongs to the AlaDH/PNT family.
In the SLCterminal section; belongs to the saccharopine dehydrogenase family.
Database links:
Entrez Gene: 10157 Human
Omim: 605113 Human
SwissProt: Q9UDR5 Human
Unigene: 156738 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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