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TMEM27 encodes a transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules.
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Lack of expression of the TMEM27 in conventional renal cell carcinoma (Montrer MOK Protéines) defines a group of patients at high risk for cancer-related death.
Tmem27 is present in human serum and its levels are significantly lower in subjects with autoimmune diabetes as compared to healthy individuals.
Bace2 (Montrer BACE2 Protéines) specifically targets Tmem27 and cleaves its extracellular domain, which is then shed from the plasma membrane of pancreatic beta cells.
Tmem27 dimerization is a dynamic process involving Bace2 (Montrer BACE2 Protéines)
Collectrin and ACE2 (Montrer ACE2 Protéines) in renal and intestinal amino acid transport.
Data support a role for TMEM27 in glucose-induced insulin (Montrer INS Protéines) secretion but not in cell proliferation. The finding that its cleavage is not specific to beta cells challenges the current support for its use as a potential beta cell mass biomarker.
Collectrin has a role in amino acid transpor in the kidney [review]
the first human study of the gene TMEM27 and an attempt to shine a light on genotype-phenotype correlation in Turner syndrome patients.
No TMEM27 gene mutations were discovered among 26 patients showing a phenotype resembling Dent's disease
this study shows that Tmem27-mediated cross-presentation supports intrahepatic adaptive antiviral immune responses and may lead to insights into the nature of how the liver acts as a primary site of CD8 (Montrer CD8A Protéines)+ T cell activation
analysis of the interaction of amino acid transporters B0AT1 (Montrer SLC6A19 Protéines) and B0AT3 with their ancillary protein collectrin
Collectrin is a consequential link between the transport of l-arginine (Montrer GATM Protéines) and endothelial nitric oxide synthase (Montrer NOS3 Protéines) uncoupling in hypertension.
transcriptional hierarchy between HNF-1beta (Montrer HNF1B Protéines) and PKD (Montrer PRKD1 Protéines) (polycystic kidney disease) genes expressed in the primary cilia of collecting duct cells has been suggested, and collectrin is one of such HNF-1beta (Montrer HNF1B Protéines) regulated genes
Tmem27 is a pancreatic beta cell transmembrane protein that regulates cell growth of pancreatic islets
Our data suggest that collectrin is a novel mediator of renal amino acid transport and may provide further insight into the pathogenesis of a number of human disease correlates.
data identify collectrin as a key regulator of renal amino acid uptake
functional association of mutant B(0)AT1 (Montrer SLC6A19 Protéines) transporters with ACE2 (Montrer ACE2 Protéines) and collectrin in intestine and kidney, respectively, participates in the phenotypic heterogeneity of Hartnup disorder
This gene encodes a transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells.
transmembrane protein 27
, kidney-specific membrane protein