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MTMR2 (NM_016156) Human Recombinant Protein

Product Specifications

Background

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]

Overview

Recombinant protein of human myotubularin related protein 2 (MTMR2), transcript variant 1

Synonyms

CMT4B; CMT4B1

Gene ID

8898

UniProt

Q13614

Accession Number mRNA

NM_016156

Chromosomal Location

11q21

Expression System

HEK293T

Tag

C-Myc/DDK

Related Pathways

Fructose and mannose metabolism, Metabolic pathways, Riboflavin metabolism, Thiamine metabolism

Field of Research

Fructose and mannose metabolism, Metabolic pathways, Riboflavin metabolism, Thiamine metabolism

Concentration

>50 ug/mL as determined by microplate BCA method

Purity

> 80% as determined by SDS-PAGE and Coomassie blue staining

Form

Liquid

Buffer

25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

Function

Druggable Genome, Phosphatase

Molecular Weight

73.2 kDa

Storage Conditions

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

Symbol

MTMR2

Species

Human

Protein ID

NP_057240

Gene ID URL

https://www.ncbi.nlm.nih.gov/gene/8898

Uniprot URL

https://www.uniprot.org/uniprot/Q13614

Accession Number mRNA URL

https://www.ncbi.nlm.nih.gov/nuccore/NM_016156

Protein ID Link

https://www.ncbi.nlm.nih.gov/nuccore/NP_057240

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