Abstract
Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. Recent studies have shown that two mutations in the gene IKBKAP are responsible for the disease. IKAP, the IKBKAP-encoded protein, is a member of the recently identified human Elongator complex. The major FD mutation is a splice mutation that results in aberrant tissue-specific mRNA splicing.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Animals
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Carrier Proteins / genetics*
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Dysautonomia, Familial / genetics*
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Humans
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Macromolecular Substances
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Organ Specificity
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RNA Splicing
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Transcriptional Elongation Factors
Substances
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Carrier Proteins
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Elp1 protein, human
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Macromolecular Substances
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Transcriptional Elongation Factors