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 ?
Additionally, the authors discussed how seipin loss-of-function mutations change the intracellular distribution of ADRP and how this is important in adipogenesis [67].
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Loss-of-function mutations in these genes cause hyperinsulinism by leading to a loss of K-ATP channels at the plasma membrane via effects on gene expression, protein synthesis, protein maturation, or membrane trafficking or by impairing the ability of SUR1 to regulate channel activity (2,3).
In many patients, loss-of-function mutations such as stop, frame-shift, and splice site mutations were found.
As a result, gain-of-function and loss-of-function mutations in the PCSK9 [2] gene have dramatic effects on serum LDLC concentrations in humans.
Loss-of-function mutations of the CaSR gene present in homozygotes with neonatal severe hyperparathyroidism (NSHPT), while heterozygotes develop familial hypocalciuric hypercalcemia (FHH) (5).
Missense mutations are more common than loss-of-function mutations, and some of them cause just as much damage.
Human genetic studies indicate that people with apoC-III loss-of-function mutations show reduced risk for cardiovascular disease, with reductions in plasma triglycerides levels, while appearing to be phenotypically normal.
This is mainly due to the difficulty of drugging loss-of-function mutations, which uniquely alter or entirely remove the gene product.
Congenital nephrogenic DI (CNDI) is an inherited form of NDI and this disorder occurs as a result of loss-of-function mutations of the AVPR2 or AQP2 genes.
An increasingly popular, but not mutually exclusive, third mechanism by which loss-of-function mutations of mitochondrial tumor suppressor genes contribute to cancer is known as pseudohypoxia.
Harlequin ichthyosis is a severe variant of autosomal recessive congenital ichthyosis resulting from loss-of-function mutations in the ABCA12 gene on chromosome 2q35, a transporter protein responsible for the formation and function of the lamellar granules.