Human Myotubularin, MTM1 ELISA Kit | MyBioSource MBS9316983 product information

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product summary

company name :

MyBioSource

product type :

ELISA/assay

product name :

Human Myotubularin, MTM1 ELISA Kit

catalog :

MBS9316983

quantity :

48-Strip-Wells

price :

470 USD

product information

catalog number :

MBS9316983

products type :

ELISA Kit

products full name :

Human Myotubularin, MTM1 ELISA Kit

products short name :

[myotubularin 1]

products name syn :

[Human Myotubularin (MTM1) ELISA kit; CNM; MTMX; XLMTM; myotubularin; myotubularin 1]

other names :

[myotubularin; Myotubularin; myotubularin; myotubularin 1]

products gene name :

[MTM1]

other gene names :

[MTM1; MTM1; CNM; MTMX; XLMTM; CG2]

uniprot entry name :

MTM1_HUMAN

reactivity :

Human

specificity :

No significant cross-reactivity or interference between this analyte and analogues is observed.

storage stability :

Store all reagents at 2-8 degree C

other info1 :

Samples: Undiluted original Human body fluids, tissue homogenates, secretions or feces samples. Assay Type: Sandwich (Quantitative). Detection Range: 3.12 ng/ml - 100 ng/ml. Sensitivity: 1.0 ng/ml.

other info2 :

Intra-assay Precision: Intra-assay CV (%) is less than 15%. Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100].

products description :

Background: This Quantitative Sandwich ELISA kit is only for in vitro research use only, not for drug, household, therapeutic or diagnostic applications! This kit is intended to be used for determination the level of MTM1 (hereafter termed "analyte") in undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances.

ncbi gi num :

4557896

ncbi acc num :

NP_000243.1

ncbi gb acc num :

NM_000252.2

uniprot acc num :

Q13496

ncbi mol weight :

69,932 Da

ncbi pathways :

Inositol Phosphate Metabolism Pathway (82987); Inositol Phosphate Metabolism Pathway (362); Phosphatidylinositol Signaling System Pathway (83052); Phosphatidylinositol Signaling System Pathway (461)

ncbi 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. [provided by RefSeq, Jul 2008]

uniprot summary :

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. Protein type: Protein phosphatase, dual-specificity; EC 3.1.3.95; EC 3.1.3.64; Motility/polarity/chemotaxis. Chromosomal Location of Human Ortholog: Xq28. Cellular Component: ruffle; I band; cytoplasm; late endosome; plasma membrane; cytosol; filopodium. Molecular Function: phosphatidylinositol-3-phosphatase activity; protein binding; intermediate filament binding; protein tyrosine phosphatase activity; phosphoprotein phosphatase activity; phosphoinositide binding. Biological Process: muscle maintenance; protein transport; phospholipid metabolic process; phosphatidylinositol biosynthetic process; endosome to lysosome transport; intermediate filament organization; phosphoinositide dephosphorylation; protein amino acid dephosphorylation; mitochondrion distribution. Disease: Myopathy, Centronuclear, X-linked

size1 :

48-Strip-Wells

price1 :

470 USD

size2 :

96-Strip-Wells

price2 :

680

size3 :

5x96-Strip-Wells

price3 :

3100

size4 :

10x96-Strip-Wells

price4 :

6095