Alpha-aminoadipic semialdehyde synthase, mitochondrial

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Aminoadipate-semialdehyde synthase
Identifiers
Symbols AASS ; LKR/SDH; LKRSDH; LORSDH
External IDs OMIM605113 MGI1353573 HomoloGene4212 GeneCards: AASS Gene
EC number 1.5.1.8, 1.5.1.9
RNA expression pattern
File:PBB GE AASS 210852 s at tn.png
File:PBB GE AASS 214829 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10157 30956
Ensembl ENSG00000008311 ENSMUSG00000029695
UniProt Q9UDR5 Q99K67
RefSeq (mRNA) NM_005763 NM_013930
RefSeq (protein) NP_005754 NP_038958
Location (UCSC) Chr 7:
122.08 – 122.14 Mb
Chr 6:
23.07 – 23.13 Mb
PubMed search [1] [2]

Alpha-aminoadipic semialdehyde synthase, mitochondrial is an enzyme that in humans is encoded by the AASS gene.[1][2]

Function

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.[2]

References

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  2. 2.0 2.1 Lua error in package.lua at line 80: module 'strict' not found.

Further reading

  • Lua error in package.lua at line 80: module 'strict' not found.
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External links


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