Diferenzas entre revisións de «Receptor da vitamina D»

== Función ==
 
Este xene codifica o receptor nuclear de hormonas para a [[vitamina D3|vitamina D<sub>3</sub>]] (calcitriol). Este receptor tamén funciona como receptor para o [[ácido biliar]] secundario [[ácido litocólico]]. O receptor pertence á familia dos factores reguladores transcricionais que actúas en trans e mostran unha similitude de secuencia cos receptores de [[hormona tiroide|hormonas tiroides]] e [[hormonashormona esteroidesesteroide|esteroides]].<ref name="pmid17132848">{{cite journal | vauthors = Germain P, Staels B, Dacquet C, Spedding M, Laudet V | title = Overview of nomenclature of nuclear receptors | journal = Pharmacol. Rev. | volume = 58 | issue = 4 | pages = 685–704 | date = December 2006 | pmid = 17132848 | doi = 10.1124/pr.58.4.2 }}</ref>
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Downstream targets of this nuclear hormone receptor are involved principally in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer.<ref name="pmid16848743">{{cite journal | vauthors = Adorini L, Daniel KC, Penna G | title = Vitamin D receptor agonists, cancer and the immune system: an intricate relationship | journal = Curr Top Med Chem | volume = 6 | issue = 12 | pages = 1297–301 | year = 2006 | pmid = 16848743 | doi = 10.2174/156802606777864890 }}</ref>
 
DownstreamAs targetsdianas of''augas thisabaixo'' nuclearda hormoneruta deste receptor arenuclear involvedde principallyhormonas inestán implicadas principalmente no metabolismo mineral metabolismaínda thoughque theo receptor regulatesregula aunha varietyvariedade ofdoutras othervías metabolic pathwaysmetabólicas, such ascomo thoseos involvedimplicados inna the[[resposta immuneinmunitaria]] responsee ando cancer[[cancro]].<ref name="pmid16848743">{{cite journal | vauthors = Adorini L, Daniel KC, Penna G | title = Vitamin D receptor agonists, cancer and the immune system: an intricate relationship | journal = Curr Top Med Chem | volume = 6 | issue = 12 | pages = 1297–301 | year = 2006 | pmid = 16848743 | doi = 10.2174/156802606777864890 }}</ref>
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Mutations in this gene are associated with type II vitamin D-resistant [[rickets]]. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding the same protein.<ref name="entrez">{{cite web | title = Entrez Gene: VDR vitamin D (1,25- dihydroxyvitamin D3) receptor| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7421| accessdate = }}</ref>
 
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