Primary Identifier | MGI:2140367 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 269514 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within autophagy of mitochondrion. Predicted to be located in mitochondrial intermembrane space and nuclear speck. Predicted to be part of SCF ubiquitin ligase complex. Human ortholog(s) of this gene implicated in mitochondrial DNA depletion syndrome 13. Orthologous to human FBXL4 (F-box and leucine rich repeat protein 4). PHENOTYPE: Homozygous knockout is mostly pre-weaning lethal but, in surviving mice around 1 year of age, increases mitochondrial turnover, causing weight loss and other morphological and also behavioral changes. [provided by MGI curators] |