Product Name
MTMR2, Blocking Peptide
Full Product Name
MTMR2 Peptide - middle region
Product Gene Name
MTMR2 blocking peptide
[Similar Products]
Product Synonym Gene Name
CMT4B; CMT4B1[Similar Products]
MTMR2 peptide (MBS3247148) is used for blocking the activity of MTMR2 antibody (MBS3222480)
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
Synthetic peptide located within the following region: QAIMDSNAQS HKIFIFDARP SVNAVANKAK GGGYESEDAY QNAELVFLDI
3D Structure
ModBase 3D Structure for Q13614
Form/Format
Lyophilized powder
Preparation and Storage
Add 100ul of sterile PBS. Final peptide concentration is 1 mg/ml in PBS. For longer periods of storage, store at -20 degree C. Avoid repeat freeze-thaw cycles.
Other Notes
Small volumes of MTMR2 blocking peptide 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
MTMR2 blocking peptide
This is a synthetic peptide designed for use in combination with anti- MTMR2 Antibody, made
Target Description: 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.
Product Categories/Family for MTMR2 blocking peptide
Peptide
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 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; Phosphatidylinositol-3-phosphate phosphatase
Protein Family
Myotubularin-related protein
UniProt Gene Name
MTMR2??[Similar Products]
UniProt Entry Name
MTMR2_HUMAN
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]
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
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Disclaimer
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