| Primary Identifier | MGI:107450 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 13382 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables dihydrolipoyl dehydrogenase activity. Involved in acetyl-CoA biosynthetic process from pyruvate. Acts upstream of or within several processes, including gastrulation; mitochondrial electron transport, NADH to ubiquinone; and sperm capacitation. Located in acrosomal matrix; cilium; and mitochondrion. Part of acetyltransferase complex; oxoglutarate dehydrogenase complex; and pyruvate dehydrogenase complex. Is active in mitochondrial matrix. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human DLD (dihydrolipoamide dehydrogenase). PHENOTYPE: Embryos homozygous for a targeted null mutation exhibit a developmental delay at 7.5 days postcoitum and are resorbed by 9.5 days postcoitum. [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
