loss-of-function mutation


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Related to loss-of-function mutation: genetic mutation, conditional mutant

loss-of-function mutation

A change in DNA that results in the decreased production of a protein or a protein with impaired function. Loss-of-function mutations are usually recessive. Synonym: inactivating mutation
See also: mutation
References in periodicals archive ?
In contrast, heterozygous patients with loss-of-function mutations in PCSK9 have significantly decreased concentrations of LDLC in serum and dramatically decreased cardiovascular risk (15-18).
Loss-of-function mutations in the genes that underlie each of the FA complementation groups have been found directly or indirectly to play a role in disrupting the DNA repair pathway of cells.
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
Experimental evolution, loss-of-function mutations, and "the first rule of adaptive evolution.
Thirteen contributions from authors directly involved in the original investigations report on such topics as the hygiene hypothesis revisited, loss-of-function mutations within the filaggrin gene, the antimicrobial skin barrier, defective sweating responses, the role of cytokines/chemokines in pathogenesis, biomarkers for itch and disease severity, and practical issues on interpretation of scoring systems, among other topics.
Recently, LP has been mapped to chromosome 1q21, and the locus for the extracellular matrix protein 1(ECM1) gene and six different loss-of-function mutations in the ECM1 gene have been identified in patients affected by LP (2) Notably, the ECM1 gene product is an 85-kDa glycoprotein of unknown function that is believed to affect keratinocyte differentiation, and it is possible that it has a role in cell-cell adhesion (10).
Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure.