Gene ID | Entry | Entry Name | Protein Name | Type | Information | 11977 | Q64430 | ATP7A_MOUSE | Copper-transporting ATPase 1 (EC 7.2.2.8) (Copper pump 1) (Menkes disease-associated protein homolog) | DISRUPTION PHENOTYPE | Cell-specific silencing in motor neurons is associated with loss of motor neuron cell bodies and progressive denervation of the neuromuscular junctions with aging, consistent with the clinical features of human distal spinal muscular atrophy X-linked disease, 3 (DSMAX3). {ECO:0000269|PubMed:25639447}. |
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