Protein Name aminoadipate-semialdehyde synthase
Organism Homo sapiens
Gene ID 10157
Gene Symbol

AASS

UniProt Q9UDR5 (AASS_HUMAN), A4D0W4 (A4D0W4_HUMAN)
Relationships Total Number of functionally related compound(s) : 8
Total Number of Articles : 9
Description

aminoadipate-semialdehyde synthase

Gene Summary

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]

synonyms
  • alpha-aminoadipic semialdehyde synthase, mitochondrial
  • alpha-aminoadipate semialdehyde synthase
  • aminoadipic semialdehyde synthase
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Properties