Primary Identifier | MGI:105386 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 13171 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable acetyltransferase activity; lipoic acid binding activity; and ubiquitin protein ligase binding activity. Predicted to contribute to branched-chain alpha-keto acid dehydrogenase activity. Predicted to be involved in branched-chain amino acid catabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; integumental system; sensory organ; and urinary system. Used to study maple syrup urine disease. Orthologous to human DBT (dihydrolipoamide branched chain transacylase E2). PHENOTYPE: Homozygous mutation of this gene results in postnatal lethality, pallor, respiratory distress, and an increase in branched-chain amino acids in the blood and urine. Homozygotes model Maple Syrup Urine Disease. [provided by MGI curators] |