Metabolism Antibodies 1
Anti-MTM1 Antibody (CAB0255)
- SKU:
- CAB0255
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Metabolism
Description
| Antibody Name: | Anti-MTM1 Antibody |
| Antibody SKU: | CAB0255 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human, Mouse |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 484-603 of human MTM1 (NP_000243.1). |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human, Mouse |
| Positive Samples: | Mouse liver, NCI-H460 |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 484-603 of human MTM1 (NP_000243.1). |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | SARE RQKV TERT VSLW SLIN SNKE KFKN PFYT KEIN RVLY PVAS MRHL ELWV NYYI RWNP RIKQ QQPN PVEQ RYME LLAL RDEY IKRL EELQ LANS AKLS DPPT SPSS PSQM MPHV QTHF |
| Gene ID: | 4534 |
| Uniprot: | Q13496 |
| Cellular Location: | Cell membrane, Cell projection, Cytoplasm, Late endosome, Peripheral membrane protein, filopodium, ruffle |
| Calculated MW: | 66kDa/69kDa |
| Observed MW: | 60kDa |
| Synonyms: | MTM1, CNM, MTMX, XLMTM |
| Background: | 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. |
| UniProt Protein Function: | MTM1: Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine- containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis. Defects in MTM1 are the cause of centronuclear myopathy X-linked (CNMX). A congenital muscle disorder characterized by progressive muscular. weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. |
| UniProt Protein Details: | Protein type:EC 3.1.3.95; Motility/polarity/chemotaxis; EC 3.1.3.64; Protein phosphatase, dual-specificity Chromosomal Location of Human Ortholog: Xq28 Cellular Component: ruffle; I band; late endosome; cytoplasm; plasma membrane; cytosol; filopodium Molecular Function:protein binding; phosphatidylinositol-3-phosphatase activity; intermediate filament binding; protein tyrosine phosphatase activity; phosphoprotein phosphatase activity; phosphoinositide binding Biological Process: muscle maintenance; protein transport; phospholipid metabolic process; phosphatidylinositol biosynthetic process; intermediate filament organization; phosphoinositide dephosphorylation; endosome to lysosome transport; protein amino acid dephosphorylation; mitochondrion distribution Disease: Myopathy, Centronuclear, X-linked |
| UniProt Code: | Q13496 |
| NCBI GenInfo Identifier: | 2851537 |
| NCBI Gene ID: | 4534 |
| NCBI Accession: | Q13496.2 |
| Molecular Weight: | |
| NCBI Full Name: | Myotubularin |
| UniProt Protein Name: | Myotubularin |
| UniProt Synonym Protein Names: | Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase |
| Protein Family: | Myotubularin |
| UniProt Gene Name: | MTM1 |
| UniProt Entry Name: | MTM1_HUMAN |
 | Western blot analysis of extracts of various cell lines, using MTM1 antibody (CAB0255). Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. |
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