脱髓鞘相关蛋白厂贬3罢颁2狈抗体
规格：1尘驳/1尘濒
英文名： SH3TC2
别名： KIAA1985; CMT4C; D430044G18Rik; FLJ13605; MNMN; PP12494; RGD1309038; S3TC2_HUMAN; SH3 domain and tetratricopeptide repeats-containing protein 2; SH3TC2.
分子量： 145kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human SH3TC2
交叉反应：Human, Mouse, Rat, Pig, Cow, Horse, Rabbit,
细胞定位：
脱髓鞘相关蛋白厂贬3罢颁2狈抗体产物介绍：background: SH3TC2 (SH3 domain and tetratricopeptide repeats 2) is a 1,288 amino acid protein that contains one SH3 domain and eight TPR repeats. The SH3TC2 gene encodes a protein expressed in Schwann cells of peripheral nerves, and localized to the plasma membrane and to the perinuclear endocytic recycling compartment, suggesting a possible function in myelination and/or in regions of axoglial interactions. The SH3TC2 protein is expressed in heart, testis, spinal cord, and brain as well as in fetal brain and liver. Mild mononeuropathy of the median nerve (MNMN) is caused by heterozygous mutation in the SH3TC2 gene. Also, Charcot-Marie-Tooth disease type 4C (CMT4C) is a more severe neuropathy caused by homozygous or compound heterozygous mutation in the SH3TC2 gene. Existing as four alternatively spliced isoforms and containing 18 exons, the SH3TC2 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, 脱髓鞘相关蛋白厂贬3罢颁2狈抗体and maps to human chromosome 5q32. Tissue Specificity: Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle. DISEASE: Defects in SH3TC2 are the cause of Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]. CMT4C 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脱髓鞘相关蛋白厂贬3罢颁2狈抗体 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. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology. Similarity: Contains 1 SH3 domain. Contains 8 TPR repeats. Database links: UniProtKB/Swiss-Prot: Q8TF17.2 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
脱髓鞘相关蛋白厂贬3罢颁2狈抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：**学 神经生物学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid