Calcitriol receptor

Calcium, phosphate and magnesium

Published in Martin Andrew Crook, Clinical Biochemistry & Metabolic Medicine, 2013

Type 2 vitamin-D-dependent rickets is also an autosomal recessive disorder and causes a vitamin D resistance and is a defect of the vitamin D or calcitriol receptor. Thus plasma 1,25-(OH)2D3 concentrations are elevated.

Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes

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Journal Information

Published in Journal of Neurogenetics, 2018

Parisa Sharafi, Sükriye Ayter

Vitamin D receptor (VDR) is another factor that is considered to affect the vitamin D levels and bone mass in NF1 patients. VDR, also known as calcitriol receptor, is encoded by genes located on chromosome 12 (12q12–14) (Miyamoto et al., 1997). Different series of polymorphisms have been reported in the VDR genes, which alter the biological processes of this receptor (Morrison, Yeoman, Kelly, & Eisman, 1992). Two of these polymorphisms were identified as a T/C transition located in a start codon (ATG) (Uitterlinden, Fang, Van Meurs, Pols, & Van Leeuwen, 2004) and a G/A polymorphism located on intron-8, which were detected using the FokI and BsmI restriction enzymes, respectively (Ingles et al., 1997). These two polymorphisms result in a shorter VDR protein with decreased expression. Bueno et al. hypothesized that the reduced VDR expression might decrease 1.25(OH)2D3 activity, even when vitamin D levels are normal, which would in turn decrease the bone turnover rate in NF1 patients due to the lack of calcium absorption in the duodenum (Souza Mario Bueno et al., 2015). However, Souza Mario Bueno et al. (2015) did not detect correlations between low vitamin D levels and VDR gene polymorphisms and deregulation of osteoblast and osteoclast activity of NF1 patients.

Calcitriol receptor

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