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Details of ALDH6A1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ALDH6A1 | MMSDH | Q02252 | MMSA_HUMAN | 4329
| ENSG00000119711
| Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105]: A metabolic disorder characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614105 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
