AASS aminoadipate-semialdehyde synthase
Gene ID: 10157, updated on 3-Apr-2024Gene type: protein coding
Also known as: LKRSDH; LORSDH; LKR/SDH
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- Go to complete Gene record for AASS
- Go to Variation Viewer for AASS variants
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
| Description | Tests |
|---|---|
| Hyperlysinemia | See labs |
Genomic context
- Location:
- 7q31.32
- Sequence:
- Chromosome: 7; NC_000007.14 (122073549..122144249, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AASS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AASS database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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