Primary Identifier | MGI:2441982 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 214579 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including NAD binding activity; identical protein binding activity; and succinate-semialdehyde dehydrogenase (NAD+) activity. Acts upstream of or within carboxylic acid metabolic process and post-embryonic development. Located in mitochondrion. Used to study epilepsy. Human ortholog(s) of this gene implicated in succinic semialdehyde dehydrogenase deficiency. Orthologous to human ALDH5A1 (aldehyde dehydrogenase 5 family member A1). PHENOTYPE: Homozygous mutation of this gene results in reduced body weight, ataxia, seizures, gliosis of the hippocampus, and early death. [provided by MGI curators] |