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WHAT GOES WRONG IN INCONTINENTIA PIGMENTI?
Males with cannot survive without a functioning NEMO gene, and thus die in utero. In females, some cells have a normal functioning NEMO gene (from the normal X chromosome) while other cells have a defective NEMO gene. Currently, it is thought that the symptoms of IP in females result from cells with a defective NEMO gene in the affected tissue. Now that the gene has been found, this view can be tested.

The normal function of NEMO is to allow cells to respond to outside signals, such as growth factors. Follow this link to read more technical information on NEMO with links to references and DNA and protein sequence.

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