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A mutation analysis was performed using the previously described primers, covering a 569 bp region on ENPP1 cDNA, corresponding to the region between amino acid residues 745 and 941.
Additionally, it has been shown that ENPP1 isolated from the mouse liver also catalyzes the hydrolysis of 2'3'-cGAMP (8).
By generating inorganic pyrophosphate (PPi), ENPP1 plays an important role in the regulation of pyrophosphate levels, bone mineralization and soft tissue calcification.
Mutations in this gene are less severe and phenotypically not as restrictive as those in ENPP1 .
The researchers injected several different small molecules that could disrupt the activity of ENPP1 and observed a decrease of 50% or more in the extent of calcium deposition.
(2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
To confirm the differential expression of ENPP1 and ANKH, we performed semiquantitative RT-PCR.
Loss-of Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets.
Ectoenzyme nucleotide pyrophosphate phosphodiesterase (ENPP1): ENPP1 (also known as PC-1, plasma cell differentiation antigen 1) has been identified as a factor potentially contributes to IR by binding to INSR and affecting its signaling.
An ENPP1 mutation, for example, which is known to protect against obesity and type II diabetes, is present in about 90 percent of non-Africans but nearly absent in Africans.
One example in recent findings suggests that several variants of the ENPP1 gene play a primary role in the development of both obesity (in children and adults) and type 2 diabetes through mediation of insulin resistance.
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