| 52892 |
Q5SUC9 |
SCO1_MOUSE |
Protein SCO1 homolog, mitochondrial |
DISRUPTION PHENOTYPE |
Heart-specific and striated muscle-specific knockout mice exhibit a lethal phenotype due to a combined COX and copper deficiency that results in a dilated cardiomyopathy. Cardiac copper deficiency is caused by the mislocalization of copper transporter CTR1 to the cytoplasm (PubMed:28973536). Liver-specific knockout mice exhibit a lethal phenotype associated with profound hepatic COX and copper deficiencies. Hepatic copper deficiency is due to reduced localization of CTR1 at the cell membrane and an enhanced proteasomal degradation of CTR1 (PubMed:25683716). {ECO:0000269|PubMed:25683716, ECO:0000269|PubMed:28973536}. |