SBF2 Antibody Blocking Peptide(bs-17249P)-500ug产品图

SBF2 Antibody Blocking Peptide

(bs-17249P)-500ug
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  • bs-17249P
  • 2025年10月16日
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      500ug

    产品编号bs-17249P
    英文名称SBF2 Antibody Blocking Peptide
    中文名称肌微管蛋白MTMR13封闭多肽
    英文别名SBF2; CMT4B2; KIAA1766; MTMR13; Myotubularin-related protein 13; SET-binding factor 2.
    纯化方法HPLC
    研究领域

    Neuroscience > Neurology process > Neurodegenerative disease

    Signal Transduction > Signaling Pathway > G Protein Signaling > Small G Proteins > Regulators

    亚细胞定位Cell Membrane and Cytoplasmic. Peripheral membrane protein.
    功能Defects in SBF2 are the cause of Charcot-Marie-Tooth disease type 4B2 (CMT4B2). CMT4B2 is a recessive 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 and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies 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. By convention, autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4B2 is characterized by abnormal folding of myelin sheaths. CMT4B2 is a recessive 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 and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies 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. By convention, autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4B2 is characterized by abnormal folding of myelin sheaths.
    保存条件Shipped at 4℃. Stored at -20℃ for one year. Avoid repeated freeze/thaw cycles.
    注意事项This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
    背景资料This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]

     

     

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