AASS

Chr 7AR

aminoadipate-semialdehyde synthase

Also known as: LKR/SDH, LKRSDH, LORSDH

NCBI Gene: 10157 ENSG00000008311 UniProt: Q9UDR5 OMIM: 605113

This gene encodes a bifunctional enzyme that catalyzes the first two steps in lysine degradation, converting lysine to alpha-aminoadipic semialdehyde through its lysine-ketoglutarate reductase and saccharopine dehydrogenase activities. Mutations cause hyperlysinemia, an autosomal recessive disorder of amino acid metabolism. The gene shows tolerance to loss-of-function variation (pLI near zero), consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

HyperlysinemiaMIM #238700

UniProtHyperlysinemia, 1

UniProt2,4-dienoyl-CoA reductase deficiency

Clinical highlights

Gene-disease validity (ClinGen)

hyperlysinemia · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.81

LOEUF

LOF

Mechanism· G2P