MTMR2 encodes a ubiquitously expressed phosphatase whose preferred substrate is phosphatidylinositol (3,5)-biphosphate, a regulator of membrane homeostasis ...
Gene Location. MTMR2. myotubularin related protein 2. Location: Chromosome 11, NC_000011.10 (95832880..95924207, complement) · PDB Entries; Metabolic Pathways ...
Mar 7, 2013 · Seven cases were found to carry CMT4-causing gene mutations: one case with a GDAP1 mutation, one case with an MTMR2 mutation, two cases with ...
... Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B JOURNAL Gene 283 (1-2), 17-26 (2002) PUBMED 11867209 REFERENCE 2 (bases 1 ...
Because MTMR2 forms a heterotetramer with MTMR13 (9), mutation in MTMR2 and MTMR13 causes Charcot-Marie-Tooth disease (types 4B1 and 4B2, respectively), a ...
28, gene symbol, MTMR2, species, Homo sapiens (Human). protein Name, Myotubularin-related protein 2, num of AS variants, 2. AS position, N-ter, AS type, INDEL ...
Feb 17, 2011 · In patients with demyelinating CMT, we screened for mutations of PMP22, MPZ, LITAF, NEFL, GJB1, GDAP1, MTMR2, MTMR13, EGR2, PRX, DNM2 and YARS.
1, gene symbol, MTMR2, species, Homo sapiens (Human). protein Name, Myotubularin-related protein 2, num of unique AS variants, 2.
Jan 16, 2009 · Previtali et al. found that NEFL interacts with MTMR2 in both Schwann's cells and neurons. In addition, MTMR2 encodes a phosphatase and MTMR2 ...
Jul 3, 2013 · MTMR2 associates with Dlg1 (also known as SAP97), a scaffolding protein that in Schwann cells also interacts with the kinesin 13B (kif13B) ...
