NP_005754.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
102,132 Da
NCBI Official Full Name
alpha-aminoadipic semialdehyde synthase, mitochondrial
NCBI Official Synonym Full Names
aminoadipate-semialdehyde synthase
NCBI Protein Information
alpha-aminoadipic semialdehyde synthase, mitochondrial
UniProt Protein Name
Alpha-aminoadipic semialdehyde synthase, mitochondrial
UniProt Synonym Protein Names
LKR/SDHIncluding the following 2 domains:Lysine ketoglutarate reductase (EC:1.5.1.8); LKR; LORSaccharopine dehydrogenase (EC:1.5.1.9); SDH
UniProt Synonym Gene Names
UniProt Entry Name
AASS_HUMAN
NCBI Summary for AASS
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. [provided by RefSeq, Jul 2008]
UniProt Comments for AASS
AASS: 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. Defects in AASS are the cause of hyperlysinemia (HYPLYS). Hyperlysinemia is an autosomal recessive condition characterized by hyperlysinemia lysinuria and variable saccharopinuria.
Protein type: Oxidoreductase; Amino Acid Metabolism - lysine degradation; EC 1.5.1.8; Mitochondrial; EC 1.5.1.9; Amino Acid Metabolism - lysine biosynthesis
Chromosomal Location of Human Ortholog: 7q31.3
Cellular Component: intracellular membrane-bound organelle; mitochondrion; mitochondrial matrix
Molecular Function: saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity; saccharopine dehydrogenase (NADP+, L-lysine-forming) activity
Biological Process: L-lysine catabolic process to acetyl-CoA via saccharopine; lysine catabolic process; protein tetramerization
Disease: Saccharopinuria; Hyperlysinemia, Type I
Research Articles on AASS
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with AASS sirna
Pathways associated with AASS sirna
Diseases associated with AASS sirna
Organs/Tissues associated with AASS sirna
|