rs749996209
This variant is located in the AASS gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout 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]
View all AASS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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