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Mouse Anti-MTMR14 Recombinant Antibody (CBFYM-2747) (CBMAB-M2940-FY)

This product is mouse antibody that recognizes MTMR14. The antibody CBFYM-2747 can be used for immunoassay techniques such as: FC, IF, WB.
See all MTMR14 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Dog, Rat
Clone
CBFYM-2747
Antibody Isotype
IgG1
Application
FC, IF, WB

Basic Information

Immunogen
MTMR14 antibody was raised in mouse using a full length recombinant protein of human MTMR14 (NP_001070993) produced in HEK293T cells,
Specificity
Human, Dog, Rat
Antibody Isotype
IgG1
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
Buffer
PBS, pH 7.3, 1% BSA, 50% glycerol
Preservative
0.02% Sodium azide
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

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
Human64419
Dog484668
Rat312634
UniProt ID
HumanQ8NCE2
DogE2RB77
RatD3ZMA2
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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