Survival of motor neuron
Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes. SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and cellular trafficking. SMN deficiency, primarily due to mutations in SMN1, results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy. Research also showed a possible role of SMN in neuronal migration and/or differentiation.
known for
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BranaplamCell nucleusCoilinDDX20Deletion (genetics)Gem-associated protein 4Gem-associated protein 5Gem-associated protein 6Gideon DreyfussIndoprofenNusinersenOnasemnogene abeparvovecPanobinostatRisdiplamSMNSMN1SMN2SMNCSalbutamolSmall nuclear RNASnRNPSpinal muscular atrophySurvival motor neuronSurvival motor neuron proteinSurvival of Motor NeuronSurvival of motor neuron proteinSurvivor motor neuronTudor domain
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primaryTopic
Survival of motor neuron
Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes. SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and cellular trafficking. SMN deficiency, primarily due to mutations in SMN1, results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy. Research also showed a possible role of SMN in neuronal migration and/or differentiation.
has abstract
Survival of motor neuron or su ...... ration and/or differentiation.
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Wikipage page ID
11,549,565
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992,565,379
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caption
Tudor domain from human SMN. PDB
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InterPro
IPR010304
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name
Survival motor neuron protein
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Pfam
PF06003
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Pfam clan
CL0049
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symbol
SMN
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wikiPageUsesTemplate
hypernym
comment
Survival of motor neuron or su ...... ration and/or differentiation.
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label
Survival of motor neuron
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