Haploinsufficiency occurs when a
cell is incapable of producing the total level of a gene product (typically a
protein). It happens only in diploid organisms, when only one of the gene copies
is functional, while the other copy carries a mutation (e.g. a deletion in the
gene itself).
In other words, if the normal
phenotype requires protein production of both alleles and one is not
functioning, there will only exist about 50% of the quantity necessary for the
proper functioning of the cell, resulting in an abnormal phenotype, leading to
disease (some cancers).
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