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AASS aminoadipate-semialdehyde synthase

Also known as: LKRSDH; LORSDH; LKR/SDH

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Hyperlysinemia
MedGen: C0268553OMIM: 238700GeneReviews: Not available
See labs
Saccharopinuria
MedGen: C0268556OMIM: 268700GeneReviews: Not available
See labs

Genomic context

Location:
7q31.32
Sequence:
Chromosome: 7; NC_000007.14 (122073544..122144290, complement)
Total number of exons:
25

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