製品の概要

製品の詳細

  • 由来Recombinant
  • 由来Wheat germ
  • アミノ酸配列
    • アクセッション番号Q01453
    • 生物種Human
    • 配列VSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNEWLQSVQATMILSII FSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAA
    • 分子量36 kDa including tags
    • 領域25 to 114
    • タグGST tag N-Terminus

特性

Our Abpromise guarantee covers the use of ab112343 in the following tested applications.

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

  • アプリケーション

    SDS-PAGE

    ELISA

    Western blot

  • 製品の状態Liquid
  • 備考Best use within three months from the date of receipt of this protein.
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    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

関連情報

  • 別名
    • 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
  • 機能Might be involved in growth regulation, and in myelinization in the peripheral nervous system.
  • 関連疾患Defects 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.
  • 配列類似性Belongs to the PMP-22/EMP/MP20 family.
  • 細胞内局在Membrane.
  • Information by UniProt

Recombinant Human PMP22 protein 画像

  • ab112343 analysed on a 12.5% SDS-PAGE gel stained with Coomassie Blue.

Recombinant Human PMP22 protein (ab112343) 使用論文

ab112343 has not yet been referenced specifically in any publications.

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