Primary Identifier | MGI:2445096 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 209692 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable oxoglutarate dehydrogenase (succinyl-transferring) activity and thiamine pyrophosphate binding activity. Acts upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in mitochondrion. Used to study 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. Human ortholog(s) of this gene implicated in 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. Orthologous to human DHTKD1 (dehydrogenase E1 and transketolase domain containing 1). PHENOTYPE: Null mice show progressive muscle weakness and atrophy, motor and sensory dysfunctions, decreased nerve conduction velocity, increased 2-ketoadipic acid and 2-aminoadipic acid in urine, elevated insulin levels, myelin damage and axonal degeneration. [provided by MGI curators] |