QuickView for AASS (gene)

Gene Symbol:

AASS Homo sapiens

Full name:

aminoadipate-semialdehyde synthase

Synonyms:

LKR/SDH, LKRSDH, LORSDH, alpha-aminoadipic semialdehyde synthase, mitochondrial, alpha-aminoadipate semialdehyde synthase, aminoadipic semialdehyde synthase, lysine-2-oxoglutarate reductase, lysine-ketoglutarate reductase /saccharopine dehydrogenase

Genomic Location:

Chr 7: 121503423-121561112

Description:

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. Mutat...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Cytogenetic Map:

7q31.32

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