| Primary Identifier | MGI:108186 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 110695 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable betaine-aldehyde dehydrogenase (NAD+) activity and identical protein binding activity. Predicted to be involved in glycine betaine biosynthetic process from choline. Located in mitochondrion. Is expressed in several structures, including alimentary system; metanephros; nervous system; respiratory system; and sensory organ. Used to study pyridoxine-dependent epilepsy. Human ortholog(s) of this gene implicated in early-onset vitamin B6-dependent epilepsy 4. Orthologous to human ALDH7A1 (aldehyde dehydrogenase 7 family member A1). PHENOTYPE: Normal phenotype is seen in one allele that disrupts the gene. Another knock-out allele shows high levels of upstream lysine metabolites in the brain and liver, abnormal amino acid metabolism, increased oxidative stress, and high lysine/low pyridoxine diet-induced seizures. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
