| Gene ID | Entry | Entry Name | Protein Name | Type | Information | 234847 | Q3ULF4 | SPG7_MOUSE | Paraplegin (EC 3.4.24.-) (Spastic paraplegia 7 protein) | DISRUPTION PHENOTYPE | Mice are affected by a distal axonopathy of spinal and peripheral axons, characterized by axonal swelling and degeneration. Mitochondrial morphological abnormalities occur in synaptic terminals and in distal regions of axons long before the first signs of swelling and degeneration and correlate with onset of motor impairment during a rotarod test. {ECO:0000269|PubMed:14722615}. |
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