Product Synonym Names
CMT4B; CMT4B1
Product Gene Name
anti-MTMR2 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q13614
Species Reactivity
Human, Mouse, Rat
Purity/Purification
Affinity purification
Immunogen
Recombinant protein of human MTMR2
Storage Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Preparation and Storage
Aliquot and store at-20 degree C. Avoid repeated freeze/thaw cycles.
Other Notes
Small volumes of anti-MTMR2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-MTMR2 antibody
This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3, 5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.
Applications Tested/Suitable for anti-MTMR2 antibody
Western Blot (WB)
Application Notes for anti-MTMR2 antibody
WB: 1:500-1:2000
NCBI/Uniprot data below describe general gene information for MTMR2. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001230500.1
[Other Products]
NCBI GenBank Nucleotide #
NM_001243571.1
[Other Products]
UniProt Primary Accession #
Q13614
[Other Products]
UniProt Secondary Accession #
Q9UPS9; A6NN98[Other Products]
UniProt Related Accession #
Q13614[Other Products]
NCBI Official Full Name
myotubularin-related protein 2 isoform 2
NCBI Official Synonym Full Names
myotubularin related protein 2
NCBI Official Symbol
MTMR2??[Similar Products]
NCBI Official Synonym Symbols
CMT4B; CMT4B1
??[Similar Products]
NCBI Protein Information
myotubularin-related protein 2
UniProt Protein Name
Myotubularin-related protein 2
UniProt Synonym Protein Names
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase (EC:3.1.3.95
Protein Family
Myotubularin-related protein
UniProt Gene Name
MTMR2??[Similar Products]
UniProt Synonym Gene Names
KIAA1073??[Similar Products]
NCBI Summary for MTMR2
This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
UniProt Comments for MTMR2
Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate.
Research Articles on MTMR2
1. T; p.Arg162*) who started to experience stridor and was diagnosed with bilateral vocal cord paralysis at the age of 18 months - case report and review">report the case of a Charcot-Marie-Tooth type 4B1 patient with a novel mutation in the MTMR2 gene (nonsense mutation in exon 6c.484 C>T; p.Arg162*) who started to experience stridor and was diagnosed with bilateral vocal cord paralysis at the age of 18 months - case report and review
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
