| Primary Identifier | MGI:2385311 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 235339 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables dihydrolipoyllysine-residue acetyltransferase activity. Involved in pyruvate catabolic process and pyruvate decarboxylation to acetyl-CoA. Located in mitochondrion and myelin sheath. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and respiratory system. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human DLAT (dihydrolipoamide S-acetyltransferase). PHENOTYPE: Mice homozygous for a null mutation show prenatal lethality. Heterozygous null mice display decreased susceptibility to chemical induced liver tumors. [provided by MGI curators] |