Primary Identifier | MGI:2384308 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 236900 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable ATP binding activity; protein serine/threonine kinase activity; and pyruvate dehydrogenase (acetyl-transferring) kinase activity. Predicted to be involved in several processes, including hypoxia-inducible factor-1alpha signaling pathway; peroxisome proliferator activated receptor signaling pathway; and regulation of acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. 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 Charcot-Marie-Tooth disease X-linked dominant 6. Orthologous to human PDK3 (pyruvate dehydrogenase kinase 3). PHENOTYPE: Mice lacking all 4 Pdk family members exhibit disrupted energy metabolic balance. [provided by MGI curators] |