MTM1 Antibody (PACO10643)
- SKU:
- PACO10643
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Description
抗体名: | MTM1 Antibody (PACO10643) |
抗体コード: | PACO10643 |
サイズ: | 50ul |
宿主種: | Rabbit |
申し込み: | ELISA, WB, IHC |
推奨される希釈: | |
反応性: | Human, Mouse, Rat |
免疫原: | Human MTM1 |
憲法: | Liquid |
ストレージバッファ: | PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
精製方法: | Antigen Affinity purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
シノニム: | myotubularin 1;MTM1;CNM;MTMX;XLMTM ; |
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 |