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    CLTRN collectrin, amino acid transport regulator [ Homo sapiens (human) ]

    Gene ID: 57393, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    TMEM27 expression and clinical characteristics and survival in clear cell renal cell carcinoma.

    TMEM27 expression and clinical characteristics and survival in clear cell renal cell carcinoma.
    Grewal R, Choung HYG, Roberts LL, Beane T, Chen L, Gilroy DX, Rappold PM, Le TH.

    01/21/2023
    Collectrin (Tmem27) deficiency in proximal tubules causes hypertension in mice and a TMEM27 variant associates with blood pressure in males in a Latino cohort.

    Collectrin (Tmem27) deficiency in proximal tubules causes hypertension in mice and a TMEM27 variant associates with blood pressure in males in a Latino cohort.
    Chu PL, Gigliotti JC, Cechova S, Bodonyi-Kovacs G, Wang YT, Chen L, Wassertheil-Smoller S, Cai J, Isakson BE, Franceschini N, Le TH., Free PMC Article

    12/24/2022
    Maternal serum collectrin levels are significantly lower in patients with preeclampsia than in the control group. There is an inverse correlation between serum collectrin levels and blood pressure.

    Serum collectrin levels in patients with early- and late-onset preeclampsia.
    Aslan Cetin B, Aydogan Mathyk B, Cift T, Tuten A, Bulut B, Yilmaz N, Erenel H, Ekmekci H, Gezer A.

    12/22/2018
    Lack of expression of the TMEM27 in conventional renal cell carcinoma defines a group of patients at high risk for cancer-related death.

    Lack of TMEM27 expression is associated with postoperative progression of clinically localized conventional renal cell carcinoma.
    Javorhazy A, Farkas N, Beothe T, Pusztai C, Szanto A, Kovacs G.

    02/18/2017
    Tmem27 is present in human serum and its levels are significantly lower in subjects with autoimmune diabetes as compared to healthy individuals.

    Tmem27 is upregulated by vitamin D in INS-1 cells and its serum concentrations are low in patients with autoimmune diabetes.
    Pepaj M, Gjerlaugsen N, Julien K, Thorsby PM.

    05/16/2015
    Bace2 specifically targets Tmem27 and cleaves its extracellular domain, which is then shed from the plasma membrane of pancreatic beta cells.

    Bace2 is a β cell-enriched protease that regulates pancreatic β cell function and mass.
    Esterházy D, Stützer I, Wang H, Rechsteiner MP, Beauchamp J, Döbeli H, Hilpert H, Matile H, Prummer M, Schmidt A, Lieske N, Boehm B, Marselli L, Bosco D, Kerr-Conte J, Aebersold R, Spinas GA, Moch H, Migliorini C, Stoffel M.

    06/26/2013
    Tmem27 dimerization is a dynamic process involving Bace2

    Tmem27 dimerization, deglycosylation, plasma membrane depletion, and the extracellular Phe-Phe motif are negative regulators of cleavage by Bace2.
    Esterházy D, Akpinar P, Stoffel M.

    09/29/2012
    Collectrin and ACE2 in renal and intestinal amino acid transport.

    Collectrin and ACE2 in renal and intestinal amino acid transport.
    Singer D, Camargo SM.

    02/18/2012
    Data support a role for TMEM27 in glucose-induced insulin 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.

    The role of transmembrane protein 27 (TMEM27) in islet physiology and its potential use as a beta cell mass biomarker.
    Altirriba J, Gasa R, Casas S, Ramírez-Bajo MJ, Ros S, Gutierrez-Dalmau A, Ruiz de Villa MC, Barbera A, Gomis R., Free PMC Article

    08/30/2010
    No TMEM27 gene mutations were discovered among 26 patients showing a phenotype resembling Dent's disease

    Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
    Tosetto E, Addis M, Caridi G, Meloni C, Emma F, Vergine G, Stringini G, Papalia T, Barbano G, Ghiggeri GM, Ruggeri L, Miglietti N, D Angelo A, Melis MA, Anglani F.

    01/21/2010
    the first human study of the gene TMEM27 and an attempt to shine a light on genotype-phenotype correlation in Turner syndrome patients.

    Collectrin gene screening in Turner syndrome patients with kidney malformation.
    Pasquali L, d'Annunzio G, Gastaldi R, Di Battista E, Calcaterra V, Larizza D, Lorini R, D'Amato E.

    01/21/2010
    Collectrin has a role in amino acid transpor in the kidney [review]

    Collectrin and the kidney.
    Mount DB.

    01/21/2010
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