Abstract
Mutation or deletion of one of the two genes encoding a protein known as SMN has recently been shown to cause spinal muscular atrophy. The SMN protein has been found to be part of a multi-component complex that appears to function in the assembly of cellular ribonucleoprotein particles.
MeSH terms
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Animals
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Cyclic AMP Response Element-Binding Protein
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Humans
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Macromolecular Substances
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Multigene Family
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Muscular Atrophy, Spinal / genetics
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Muscular Atrophy, Spinal / metabolism*
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Nerve Tissue Proteins / chemistry
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Nerve Tissue Proteins / genetics
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Nerve Tissue Proteins / physiology*
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Oocytes
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Polymorphism, Genetic
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RNA-Binding Proteins
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Ribonucleoproteins, Small Nuclear / metabolism*
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SMN Complex Proteins
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Xenopus laevis
Substances
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Cyclic AMP Response Element-Binding Protein
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GEMIN2 protein, human
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Macromolecular Substances
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Nerve Tissue Proteins
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RNA-Binding Proteins
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Ribonucleoproteins, Small Nuclear
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SMN Complex Proteins