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The VDR gene encodes the nuclear hormone receptor for vitamin D. The most potent natural agonist is calcitriol (1,25-dihydroxycholecalciferol) and the vitamin D 2 homologue ercalcitriol, 1-alpha,25-dihydroergocalciferol) is also a strong activator.
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 ...
All gene segments between the V β-D β-J β gene segments in the newly formed complex are deleted and the primary transcript is synthesized that incorporates the constant domain gene (V β-D β-J β-C β). mRNA transcription splices out any intervening sequence and allows translation of the full length protein for the TCR β-chain.
The VDR/RXR complex subsequently binds to vitamin D response elements (VDRE) which are specific DNA sequences adjacent to genes, numbers estimated as being in the thousands. The VDR/RXR/DNA complex recruits other proteins that transcribe the downstream gene into mRNA which in turn is translated into protein causing a change in cell function. [3 ...
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.
RAR-related orphan receptor alpha (RORα), also known as NR1F1 (nuclear receptor subfamily 1, group F, member 1) is a nuclear receptor that in humans is encoded by the RORA gene. [5] RORα participates in the transcriptional regulation of some genes involved in circadian rhythm . [ 6 ]
The TMEM106C gene is located on the long arm of the 12th chromosome. It is found at position 12q13.1. This gene spans from 48357225 to 48362667 on chromosome 12. [7] This gene is in between COL2A1, the human type II collagen gene, and VDR, the human Vitamin D Receptor gene. [8]
Multiple ETS factors have been found to be associated with cancer, such as through gene fusion. For example, the ERG ETS transcription factor is fused to the EWS gene, resulting in a condition called Ewing's sarcoma. [6] The fusion of TEL to the JAK2 protein results in early pre-B acute lymphoid leukaemia. [7]
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