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The vitamin D receptor (VDR also known as the calcitriol receptor) is a member of the nuclear receptor family of transcription factors. [5] Calcitriol (the active form of vitamin D , 1,25-(OH) 2 vitamin D 3 ) binds to VDR, which then forms a heterodimer with the retinoid-X receptor .
The VDR is widely distributed in tissues, and is not restricted to those tissues considered the classic targets of vitamin D. The VDR upon binding to 1,25(OH) 2 D heterodimerizes with other nuclear hormone receptors, in particular the family of retinoid X receptors. This VDR/RXR heterodimer complex binds to the specific VDRE in the promoters of ...
V(D)J recombination (variable–diversity–joining rearrangement) is the mechanism of somatic recombination that occurs only in developing lymphocytes during the early stages of T and B cell maturation.
25-Hydroxyvitamin D 1-alpha-hydroxylase (VD 1A hydroxylase) also known as calcidiol 1-monooxygenase [5] or cytochrome p450 27B1 (CYP27B1) or simply 1-alpha-hydroxylase is a cytochrome P450 enzyme that in humans is encoded by the CYP27B1 gene.
CYP2R1 is cytochrome P450 2R1, an enzyme which is the principal vitamin D 25-hydroxylase. [5] [6] In humans it is encoded by the CYP2R1 gene located on chromosome 11p15.2. [7]It is expressed in the endoplasmic reticulum in liver, where it performs the first step in the activation of vitamin D by catalyzing the formation of 25-hydroxyvitamin D. [8]
The rate at which de novo mutations occur is not static and can vary among different organisms and even among individuals. In humans, the average number of spontaneous mutations (not present in the parents) an infant has in its genome is approximately 43.86. [3] Various factors can influence this rate.
Different mutations are more common among certain populations in the world. [26] The most common exonic mutations of AIRE occur on exons 1, 2, 6, 8, and 10. Exons 1 and 2 encode the HSR, exon 6 encodes the SAND domain, exon 8 is in the PHD-1 domain, and exon 10 is located in the proline-rich region between the two PHD finger domains. [ 27 ]
A derived G-allele point mutation with pleiotropic effects in EDAR, 370A or rs3827760, is found in ancient and modern East Asians, North Asians, Southeast Asians, Nepalese, [5] and Native Americans but not common in African or European populations.