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Details of AASS gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| AASS | --- | Q9UDR5 | AASS_HUMAN | 10157
| ENSG00000008311
| Alpha-aminoadipic semialdehyde synthase, mitochondrial
Lysine ketoglutarate reductase
Saccharopine dehydrogenase | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Hyperlysinemia (HYPLYS) [MIM:238700]: Autosomal recessive condition characterized by hyperlysinemia lysinuria and variable saccharopinuria. Note=The disease is caused by mutations affecting the gene represented in this entry. |
238700 |
