Familial dysautonomia.
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.
Slaugenhaupt
Susan A
SA
Harvard Institute of Human Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. slaugenh@helix.mgh.harvard.edu
Gusella
James F
JF
D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D004402:Dysautonomia, Familial / Q000235:genetics*; D006801:Humans; D046911:Macromolecular Substances; D009928:Organ Specificity; D012326:RNA Splicing; D035602:Transcriptional Elongation Factors
D002352:Carrier Proteins; C114720:Elp1 protein, human; D046911:Macromolecular Substances; D035602:Transcriptional Elongation Factors