Symbol: Name: ID: |
AASS aminoadipate-semialdehyde synthase GFS:6445 |
Gene name: | AASS |
Chromosome: | 7q31.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | LORSDH, LKRSDH |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1353573 | Rat Genome Database ID: | RGD:1310811 |
HGNC ID: | HGNC:17366 | RefSeq IDs: | NM_005763 |
Entrez Gene ID: | 10157 | Ensembl Gene ID: | ENSG00000008311 |
VEGA IDs: | OTTHUMG00000157058 | UniProt ID: | Q9UDR5 |
UCSC ID: | uc003vkb.2 | OMIM ID: | 605113 |
Pubmed: | PMID10775527 | ||
CCDS IDs: | CCDSCCDS5783.1 |
Alpha-aminoadipic semialdehyde synthase, mitochondrial is an enzyme that in humans is encoded by the AASS gene.
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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Function: Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively.
Products for AASS gene
Catalog | Product Name | Application | Company |
GFS:E06445 | aminoadipate-semialdehyde synthase; ELISA kit | ELISA | n/a |
GFS:A06445 | aminoadipate-semialdehyde synthase; Anti | ANTIBODIES | n/a |
GFS:P06445 | aminoadipate-semialdehyde synthase; Protien | Protien | n/a |