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Haploinsufficiency occurs when a diploid organism only has a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy of the gene does not produce enough of a gene product (typically a protein) to bring about a wild-type condition, leading to an abnormal or diseased state.
Human diseases caused by haploinsufficiency include:
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Haploinsufficiency". A list of authors is available in Wikipedia.|