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Myotubularin related protein 7

MTMR7, Myotubularin-related protein 7
This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009] (from NCBI)
Top mentioned proteins: MTMR3, NPAS2, HAD, SCG10, Inactive
Papers on MTMR7
Genetics of prion diseases.
Review
Collinge et al., London, United Kingdom. In Curr Opin Genet Dev, 2013
Two recent genome wide association studies in human have identified four new loci of interest: ZBTB38-RASA2 in UK CJD cases and MTMR7 and NPAS2 in variant CJD.
Lipid phosphatases identified by screening a mouse phosphatase shRNA library regulate T-cell differentiation and protein kinase B AKT signaling.
Paul et al., Bethesda, United States. In Proc Natl Acad Sci U S A, 2013
Silencing MTMR9 by shRNA or siRNA resulted in enhanced T-helper (Th)1 differentiation and increased Th1 protein kinase B (PKB)/AKT phosphorylation while silencing MTMR7 caused increased Th2 and Th17 differentiation and increased AKT phosphorylation in these cells.
Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.
van Duijn et al., Santander, Spain. In Neurobiol Aging, 2012
Rs4921542 (p = 1.6 × 10(-8)) is an intronic variant in the myotubularin related protein 7 gene (MTMR7), which is specifically expressed in the central nervous system (CNS) and dephosphorylates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate.
Myotubularin-related protein (MTMR) 9 determines the enzymatic activity, substrate specificity, and role in autophagy of MTMR8.
Wilson et al., Saint Louis, United States. In Proc Natl Acad Sci U S A, 2012
We studied a subfamily of homologous myotubularins, including myotubularin-related protein 6 (MTMR6), MTMR7, and MTMR8, all of which dimerize with the catalytically inactive MTMR9.
A novel locus for generalized epilepsy with febrile seizures plus in French families.
Nabbout et al., Paris, France. In Arch Neurol, 2008
We have not, so far, identified mutations in the coding exons of 6 candidate genes (MTMR9, MTMR7, CTSB, SGCZ, SG223, and ATP6V1B2) located in the genetic interval.
Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9.
GeneRIF
Majerus et al., Saint Louis, United States. In Proc Natl Acad Sci U S A, 2003
MTMR7 forms a complex with MTMR9 and dephosphorylates phosphatidylinositol 3-phosphate and Ins(1,3)P2 in neuronal cells.
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