Browse our MTM1 Proteins (MTM1)

Full name:
Myotubularin 1 Proteins (MTM1)
On www.antibodies-online.com are 4 Myotubularin 1 (MTM1) Proteins from 2 different suppliers available. Additionally we are shipping MTM1 Antibodies (78) and MTM1 Kits (6) and many more products for this protein. A total of 95 MTM1 products are currently listed.
Synonyms:
AF073996, CNM, mKIAA4176, Mtm, MTMX, wu:fb19c01, XLMTM, zgc:123266
list all proteins Gene Name GeneID UniProt
MTM1 4534 Q13496
Rat MTM1 MTM1 288762 Q6AXQ4
MTM1 17772 Q9Z2C5

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MTM1 Proteins (MTM1) by Origin

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Zebrafish Myotubularin 1 (MTM1) interaction partners

Human Myotubularin 1 (MTM1) interaction partners

  1. level of myotubes MTM1 mutations do not dramatically affect calcium homeostasis and calcium release mediated through the ryanodine receptor 1 (show RYR1 Proteins), though they do affect myotube size and nuclear content..mature muscles such as those obtained from patient muscle biopsies exhibit a significant decrease in expression of the ryanodine receptor 1 (show RYR1 Proteins), a decrease in muscle-specific (show EIF3K Proteins) microRNAs and a considerable up-regulation of HDAC4 (show HDAC4 Proteins).

  2. In platelets, MTM1 is a highly active 3-phosphatase mainly associated to membranes and found on the dense granules and to a lesser (show F2 Proteins)extent on alpha-granules.

  3. Results confirm that the severe neonatal onset of myopathy in male infants is sufficient to address the direct molecular testing toward the MTM1 gene and, above all, suggest that the number of undiagnosed symptomatic female carriers is probably underestimated

  4. This study demonistrated that MTM1 mutation releated to Centronuclear myopathy.

  5. mutations in SPEG (show SPEG Proteins) cause a centronuclear myopathy phenotype as a result of its interaction with MTM1.

  6. Mutations in specific myotubularins such as MTM1 result in myotubular myopathy and Charcot-Marie-Tooth peripheral neuropathy. (Review)

  7. Large duplications in MTM1 may account for a number of Centronuclear myopathy cases that have remained genetically unresolved.

  8. Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 (show MTMR12 Proteins) proteins result in reduction of both myotubularin and MTMR12 (show MTMR12 Proteins)

  9. data explain the basis for phenotypic variability among human patients with MTM1 p.R69C mutations and establish the Mtm1 p.R69C mouse as a valuable model for the disease, as its less severe phenotype will expand the scope of testable preclinical therapies

  10. The patients of Myopathy had a novel heterozygous splice site mutation in the myotubularin gene, MTM1 (c.867+1G>T). Analysis of MTM1 cDNA revealed that the mutation resulted in aberrant splicing with variable exon skipping.

Mouse (Murine) Myotubularin 1 (MTM1) interaction partners

  1. deletion of MTM1 in mouse had no significant effect on platelet count and on platelet secretion and aggregation induced by thrombin (show F2 Proteins) or collagen stimulation.

  2. Differential muscle hypertrophy is associated with satellite cell numbers and Akt (show AKT1 Proteins) pathway activation following activin type IIB receptor (show ACVR2B Proteins) inhibition in Mtm1

  3. MTM1 interacts with BIN1 (show BIN1 Proteins) in skeletal muscle.

  4. Data show that the IGF1R (show IGF1R Proteins)/Akt (show AKT1 Proteins) pathway is affected in phosphoinositide phosphatase myotubularin (MTM1)-deficient muscles.

  5. Deletion of the Mtm1 gene in a mature muscle reproduces the pathological hallmarks of myotubular myopathy.

  6. study reveal a direct function of MTM1 enzymatic activity in SR remodeling and a key role for PtdIns3P in promoting SR membrane curvature in skeletal muscle.

  7. aberrant mTORC1 signaling and impaired autophagy are consequences of the loss of Mtm1

  8. Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

  9. These studies demonstrate specific abnormalities in myogenic cell number and behavior that may relate to the progression of disease in myotubularin deficiency.

  10. data explain the basis for phenotypic variability among human patients with MTM1 p.R69C mutations and establish the Mtm1 p.R69C mouse as a valuable model for the disease, as its less severe phenotype will expand the scope of testable preclinical therapies

MTM1 Protein Profile

Protein Summary

This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.

Alternative names and synonyms associated with MTM1

  • myotubularin 1 (MTM1)
  • myotubularin 1 (mtm1)
  • myotubularin 1 (Mtm1)
  • X-linked myotubular myopathy gene 1 (Mtm1)
  • AF073996 protein
  • CNM protein
  • mKIAA4176 protein
  • Mtm protein
  • MTMX protein
  • wu:fb19c01 protein
  • XLMTM protein
  • zgc:123266 protein

Protein level used designations for Myotubularin 1 Proteins (MTM1)

myotubularin 1 , fb19c01 , myotubularin , myotubularin-like , X-linked myotubular myopathy gene 1

GENE ID SPECIES
422388 Gallus gallus
560881 Danio rerio
100015113 Monodelphis domestica
100069680 Equus caballus
100081312 Ornithorhynchus anatinus
100350857 Oryctolagus cuniculus
100380488 Salmo salar
100387480 Callithrix jacchus
100470283 Ailuropoda melanoleuca
100516892 Sus scrofa
548545 Xenopus (Silurana) tropicalis
703131 Macaca mulatta
4534 Homo sapiens
612385 Canis lupus familiaris
533622 Bos taurus
288762 Rattus norvegicus
734460 Xenopus laevis
100174495 Pongo abelii
17772 Mus musculus
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