Overview

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionQ01453
    • SpeciesHuman
    • SequenceMLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNV HHCFSSSPNEWLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITG IFQILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAWVAFPLALLSG VIYVILRKRE
    • Molecular weight45 kDa including tags
    • Amino acids1 to 160
    • TagsGST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab112342 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

    ELISA

    Western blot

  • FormLiquid
  • Additional notesBest use within three months from the date of receipt of this protein.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • CMT1A
    • CMT1E
    • DSS
    • GAS-3
    • GAS3
    • Growth Arrest Specific 3
    • Growth arrest-specific protein 3
    • HMSNIA
    • HNPP
    • MGC20769
    • Peripheral myelin protein 22
    • PMP-22
    • PMP22
    • PMP22_HUMAN
    • Sp110
    • Trembler
    see all
  • FunctionMight be involved in growth regulation, and in myelinization in the peripheral nervous system.
  • Involvement in diseaseDefects in PMP22 are the cause of Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]; also known as hereditary motor and sensory neuropathy IA. CMT1A is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1A inheritance is autosomal dominant.
    Defects in PMP22 are a cause of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
    Defects in PMP22 are a cause of hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]; an autosomal dominant disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas.
    Defects in PMP22 are the cause of Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300]; also known as Charcot-Marie-Tooth disease and deafness autosomal dominant. CMT1E is an autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy.
    Defects in PMP22 may be a cause of inflammatory demyelinating polyneuropathy (IDP) [MIM:139393]. IDP is a putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome.
  • Sequence similaritiesBelongs to the PMP-22/EMP/MP20 family.
  • Cellular localizationMembrane.
  • Information by UniProt

Recombinant Human PMP22 protein images

  • ab112342 analysed on a 12.5% SDS-PAGE gel stained with Coomassie Blue.

References for Recombinant Human PMP22 protein (ab112342)

ab112342 has not yet been referenced specifically in any publications.

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