Haploinsufficiency
Insufficient protein production as a result of hemizygous or haploid gene when the normal phenotype requires two alleles. The single copy of a gene does not provide enough potential for normal protein production.
"Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.". The Journal of Clinical Investigation 114 (2): 172-181. doi:10.1172/JCI200420641. PMID 15254584. Retrieved on 2007-02-15.
by the normal allele (often by dimerising with it) causing a loss-of-function phenotype. The phenotype is indistinguishable from that of homozygous dominant mutation. P53 mutations may act as dominant-negative (see also haploinsufficiency).
 See also: Mutation, Phenotype, Chromosome, Gene, Organ
  
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