Product Details

Purity

>85% (SDS-PAGE)

Target Names

PRX

Uniprot No.

Q9BXM0

Alternative Names

CMT4F; KIAA1620; Periaxin; PRAX_HUMAN; Prx

Species

Homo sapiens (Human)

Protein Length

Partial

Tag Info

Tag type will be determined during the manufacturing process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.

Form

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer before Lyophilization

Tris/PBS-based buffer, 6% Trehalose.

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet

Please contact us to get it.

Target Background

Function

Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology.

Gene References into Functions

The study identified a variant of periaxin in a Chinese family with congenital cataract by exome sequencing. PMID: 27081207
results offer a possible mechanism to the formation of periaxin complexes, improvement of complex stability, and establishment of a link between the extracellular matrix and the cytoskeleton PMID: 26940996
we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present PMID: 26059842
Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. PMID: 24011642
a variation of clinical phenotypes for CMT4F caused by a novel, nonsense PRX mutation, was shown. PMID: 22847150
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. PMID: 21741241
In this review, periaxin protein is required for the maintenance of peripheral nerve myelin; however, patients with PRX mutations have early-onset autosomal recessive demyelinating Charcot-Marie-Tooth disease or Dejerine-Sottas neuropathy. PMID: 21079185
novel mutation in vocal cord paralysis PMID: 19950375
Results indicate a prominent sensory neuropathy resulting from periaxin gene mutations and suggests a role for the carboxyl terminal domain of the periaxin protein. PMID: 12112076
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease PMID: 15197604
S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onsetCharcot-Marie-Tooth type 4F disease. PMID: 16534116
A PRX mutation in Japanese patients is presented. PMID: 16770524
Data show that the mutations in the periaxin (PRX) gene is associated with early-onset demyelinating AR-CMT and severe sensory loss. PMID: 18504680

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Involvement in disease

Dejerine-Sottas syndrome (DSS); Charcot-Marie-Tooth disease 4F (CMT4F)

Subcellular Location

[Isoform 1]: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Cytoplasm.; [Isoform 2]: Cytoplasm.; Cell membrane. Cell junction.

Protein Families

Periaxin family

Tissue Specificity

Detected in spinal cord. Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells.

Database Links

HGNC: 13797

OMIM: 145900

KEGG: hsa:57716

STRING: 9606.ENSP00000326018

UniGene: Hs.205457

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Recombinant Human Periaxin (PRX), partial

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