Genes (51)
Species: human : 51 | |
Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation | Human | C8orf38 | 137682 | | Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation | Human | FGD4 | 121512 | FYVE, RhoGEF and PH domain containing 4 | We report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy Nerve biopsy shows demyelination/remyelination | Human | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Severe demyelination of the white matter | Human | TREM2 | 54209 | triggering receptor expressed on myeloid cells 2 | Neuropathologic examination shows severe demyelination | Human | NFASC | 23114 | neurofascin | raft-association of NF155 is essential for the assembly of the paranodal junction and reduced association to lipid rafts is accompanied by the disassembly of the paranodal junction and contributes to the demyelination process in multiple sclerosis | Human | NDRG1 | 10397 | N-myc downstream regulated 1 | Abnormal brainstem auditory evoked potentials, suggesting demyelination | Human | LRPPRC | 10128 | leucine-rich pentatricopeptide repeat containing | Lesions characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation | Human | ARHGEF10 | 9639 | Rho guanine nucleotide exchange factor (GEF) 10 | Nerve biopsy may show demyelination and remyelination | Human | CTDP1 | 9150 | CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 | | Human | EIF2B5 | 8893 | eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa | Biopsy shows white matter hypomyelination, demyelination, gliosis | Human | EIF2B2 | 8892 | eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa | Biopsy shows white matter hypomyelination, demyelination, gliosis | Human | EIF2B3 | 8891 | eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa | Biopsy shows white matter hypomyelination, demyelination, gliosis | Human | EIF2B4 | 8890 | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa | Biopsy shows white matter hypomyelination, demyelination, gliosis | Human | TYROBP | 7305 | TYRO protein tyrosine kinase binding protein | Neuropathologic examination shows severe demyelination | Human | SURF1 | 6834 | surfeit 1 | Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation | Human | SOX10 | 6663 | SRY (sex determining region Y)-box 10 | Sural nerve biopsy shows hypomyelination/demyelination | Human | SDHA | 6389 | succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation | Human | PSAP | 5660 | prosaposin | Hypo- and demyelination of the brain | Human | KLK6 | 5653 | kallikrein-related peptidase 6 | hK6 expressed in the central nervous system is involved in normal myelin turnover/demyelination processes, but it is unlikely to self-activate | Human | PDHA1 | 5160 | pyruvate dehydrogenase (lipoamide) alpha 1 | Lesions characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation | Human | CLDN11 | 5010 | claudin 11 | Data demonstrate that in rhesus monkeys immune responses directed at human OSP are encephalitogenic, leading to inflammatory responses throughout the central nervous system and to selective demyelination of the optic nerve | Human | NDUFS8 | 4728 | NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) | Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation | Human | NDUFS4 | 4724 | NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) | Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation | Human | NDUFV1 | 4723 | NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa | Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation Diffuse demyelination (increased signal intensity in T2-weighted images, especially frontal lobes) |
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