| Primary Identifier | MGI:1888908 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 56454 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glutamate 5-kinase activity. Predicted to be involved in alpha-amino acid metabolic process and response to temperature stimulus. Predicted to act upstream of or within amino acid biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; cardiovascular system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in cataract; cutis laxa (multiple); enterocele; and hereditary spastic paraplegia (multiple). Orthologous to human ALDH18A1 (aldehyde dehydrogenase 18 family member A1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Heterozygotes fed a high-fat diet show mild, multifocal mixed inflammatory cell infiltration with mild fibrosis and distortion of adipocytes in the hypodermal fat layer. [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
