Primary Identifier | MGI:1914221 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 66971 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N6-isopentenyladenosine methylthiotransferase activity. Acts upstream of or within mitochondrial tRNA modification; positive regulation of mitochondrial translation; and positive regulation of translational fidelity. Located in mitochondrion. Is expressed in several structures, including adenohypophysis; alimentary system; nose; submandibular gland primordium; and trigeminal ganglion. Orthologous to human CDK5RAP1 (CDK5 regulatory subunit associated protein 1). PHENOTYPE: Mice homozygous for a null allele show deficient mitochondrial tRNA modification, reduced mitochondrial protein synthesis, defects in oxidative phosphorylation, high susceptibility to stress-induced mitochondrial remodeling, and accelerated myopathy and cardiac dysfunction under stressed conditions. [provided by MGI curators] |