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Mouse Anti-MTMR14 (AA 1-417) Recombinant Antibody (CBFYM-2746) (CBMAB-M2939-FY)

This product is mouse antibody that recognizes MTMR14. The antibody CBFYM-2746 can be used for immunoassay techniques such as: ELISA, IF.
See all MTMR14 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-2746
Antibody Isotype
IgG1, k
Application
ELISA, IF

Basic Information

Immunogen
Full length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.Immunogen sequence: MARCRGRFVC PVILFKGKHI CRSATLAGWG ELYGRSGYNY FFSGGADDAW ADVEDVTEED CALRSGDTHL FDKVRGYDIK LLRYLSVKYI CDLMVENKKV KFGMNVTSSE KVDKAQRYAD FTLLSIPYPG CEFFKEYKDR D
Specificity
Human
Antibody Isotype
IgG1, k
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 1-417

Target

Full Name
myotubularin related protein 14
Introduction
This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.
Entrez Gene ID
64419
UniProt ID
Q8NCE2
Alternative Names
Myotubularin Related Protein 14; HCV NS5A-Transactivated Protein 4 Splice Variant A-Binding Protein 1; NS5ATP4ABP1; C3orf29; Egg-Derived Tyrosine Phosphatase Homolog (Drosophila); Egg-Derived Tyrosine Phosphatase Homolog
Function
Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.
Biological Process
Macroautophagy Source: Reactome
Phosphatidylinositol biosynthetic process Source: Reactome
Cellular Location
Cytoplasm
Note: Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.
Involvement in disease
Myopathy, centronuclear, 1 (CNM1):
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.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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