(2003) detected MTMR2 in all cytoplasmic compartments of myelin-forming Schwann cells, as well as in the cytoplasm of non-myelin-forming Schwann cells and both sensory and motor neurons. (2002) hypothesized that mutations in MTMR2 may lead to malfunction of neural membrane recycling, membrane trafficking, and endo- and exocytic processes, which may be crucial elements underlying the disease mechanism in CMT4B1. Analysis of CMT4B1-associated MTMR2 mutations showed dramatically reduced phosphatase activity, suggesting that this activity is crucial for the proper functioning of peripheral nerves. This is distinct from the activity of myotubularin, which only acts on PI3P. (2002) determined that mouse Mtmr2 dephosphorylates phosphatidylinositol 3-phosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI3,5P2) with high efficiency and peak activity at neutral pH. (2002) cloned and characterized the mouse Mtmr2 gene, which encodes a 643-amino acid protein that shares 97% sequence identity with the human protein.īerger et al. (1999) found intermediate expression of KIAA1073 in all adult and fetal tissues and specific brain regions examined except spinal cord and corpus callosum, where expression was higher.īerger et al. They found the same differentially spliced forms in RNA isolated from peripheral nerve, defining a common ORF of 1,716 basepairs with the initiation codon in exon 3, which corresponded to a shorter protein (571 amino acids). (2000) identified by RT-PCR 3 additional exons, 1A, 2A, and 2B, of 71, 73, and 124 basepairs, respectively, at the 5-prime end of the cDNA that were not described in the published sequence. In both patients and controls, Bolino et al. KIAA1073 shares 100% nucleotide identity with a partial 1,203-bp cDNA corresponding to MTMR2. (1999), with an open reading frame of 1,932 basepairs encoding a protein of 643 amino acids. (2000) identified a gene, called KIAA1073 by Kikuno et al. In the course of positional cloning to identify the gene responsible for Charcot-Marie-Tooth disease type 4B (CMT4B1 601382) on chromosome 11q22, Bolino et al. Northern blot analysis revealed that the 4-kb MTMR2 mRNA is expressed ubiquitously. Sequence comparisons of the conserved protein-tyrosine phosphatase/dual-specificity phosphatase regions of myotubularin family members indicated that MTM1, MTMR1, MTMR2, a zebrafish ortholog of MTMR2, and Drosophila Mtmh1 form a distinct subgroup. (1998) isolated additional cDNAs corresponding to the entire MTMR2 coding region. (1996) identified partial cDNAs encoding MTMR2 (myotubularin-related protein-2). By searching an EST database for sequences related to MTM1 ( 300415), Laporte et al.
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