| 72795 |
Q8CC21 |
TTC19_MOUSE |
Tetratricopeptide repeat protein 19, mitochondrial (TPR repeat protein 19) |
DISRUPTION PHENOTYPE |
Mutant mice show progressive neurological and energy metabolic decline, decrease complex III activity, increased production of reactive oxygen species, extensive astrogliosis and accumulation of ubiquitinated proteins in neurons of the thalamus. Compatible with a Mendelian autosomal recessive trait. No evidence of embryonic lethality nor evidence of obvious neuronal loss. {ECO:0000269|PubMed:28673544}. |