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GDAP1 Antibody

  • 货号：
    CSB-PA009338GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q8TB36
  • 基因名：
    GDAP1
  • 别名：
    GDAP1; Ganglioside-induced differentiation-associated protein 1; GDAP1
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human GDAP1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Regulates the mitochondrial network by promoting mitochondrial fission.
  • 基因功能参考文献：
    1. This study showed that the characterization of GDAP1associated Charcot-Marie-Tooth disease. PMID: 29694336
    2. Study expands the mutational spectrum of GDAP1-related Charcot-Marie-Tooth (CMT) disease with the identification of new and unreported GDAP1 variants and demonstrates the predominance of the axonal form of neuropathy in CMT disease associated with GDAP1; highlights the clinical characteristics associated with these genotypes and describe the relative frequency of GDAP1 variants amongst the Chinese population. PMID: 29372391
    3. Study shows that GDAP1 is indeed a GST enzyme, and demonstrates a specific GSH-conjugating activity in vitro which seems to be regulated by the hydrophobic domain 1 (HD1) exerting an autoinhibitory function. HD1 could adopt an amphipathic pattern necessary to induce remodeling of organelles-mimicking liposomes by Gdap1. PMID: 27841286
    4. We identified GDAP1 variants in approximately 1% of our cohort with IPNs, and established a founder mutation in half of these patients. Our study originally described the mutational spectrum and clinical features of GDAP1-related CMT patients in Japan. PMID: 28244113
    5. This study report an AD-CMT2K with large phenotypic variability due to a novel dominant GDAP1 variant. PMID: 28236508
    6. GDAP1 hypomethylation can serve as a biomarker for alcohol dependence severity and treatment outcome. PMID: 27128683
    7. This study suggest GDAP1 as the first gene that should be analysed in Italian patients affected by CMT2. PMID: 26525999
    8. study reports on 2 Charcot-Marie-Tooth (CMT) families in which a newly identified Glu222Lys mutation within the GDAP1 gene segregates both in autosomal dominant and recessive traits PMID: 25337607
    9. The novelty of our data is the relatively high frequency of SH3TC2 and GDAP1 mutations in demyelinating and axonal forms, respectively, of Charcot-Marie-Tooth disease PMID: 25429913
    10. Results show that JPH1 and GDAP1 share a common pathway and depend on each other; therefore, JPH1 can contribute to the phenotypical consequences of GDAP1 mutations. PMID: 25168384
    11. GDAP1-associated polyneuropathy caused predominantly a mild and slowly progressive phenotype. PMID: 23456260
    12. This studies suggest that the pathophysiology of GDAP1-related CMT neuropathies may be associated with abnormal distribution and movement of mitochondria throughout cytoskeleton towards the ER and subplasmalemmal microdomains. PMID: 23542510
    13. GDAP1 regulates mitochondrial and peroxisomal fission by a similar mechanism. PMID: 23628762
    14. A novel heterozygous missense mutation (Arg120Gly) in the GDAP1 gene co-segregates with the disease within the pedigree of an Italian Charcot-Marie-Tooth disease type 2 (CMT2) family. PMID: 22971097
    15. This study suggested that the mutation of GDAP1 cased onion bulb-like formations of schwann cell in peripheral neuropathies. PMID: 23147504
    16. A French family with Charcot-Marie-Tooth disease is related to simultaneous heterozygous MFN2 and GDAP1 mutations. PMID: 22546700
    17. Patients of type 4 Charcot-Marie-Tooth disease showed reduced GDAP1 levels, GHS concentration and mitochondrial membrane potential. PMID: 21965300
    18. Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells PMID: 21890626
    19. we report two recessive intermediate Charcot-Marie-Tooth (RI-CMT) patients with GDAP1 missense mutations PMID: 21692914
    20. We show that patients with dominant GDAP1 mutations may display clear axonal Charcot-Marie-Tooth disease PMID: 21753178
    21. Clinical outcome of Charcot-Marie-Tooth disease caused by mutations in the GDAP1 gene cannot be predicted solely on the basis of genetic results (missense/nonsense mutations). PMID: 21365284
    22. An p.R120W mutation has been identified in GDAP1 causing autosomal dominant Charcot-Marie-Tooth disease with a wide clinical profile. PMID: 21199105
    23. This review provide that Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. PMID: 20849849
    24. A mutations frquency of 27% in the GST domain of GDAP1 in the dominant form of axonal Charcot Marie Tooth type 2K was observed. PMID: 20685671
    25. Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype associated with the third recurrent GDAP1 mutation having a common origin in European population was characterized. PMID: 20232219
    26. different cellular mechanisms that disturb mitochondrial dynamics underlie the similar clinical manifestations caused by GDAP1 mutations, depending on the mode of inheritance PMID: 19782751
    27. GDAP1 is broadly expressed in cancer cell lines of different tissue origin. There is a consensus YY1 binding site in the GDAP1 core promoter. PMID: 19720140
    28. Mutations in GDAP1 are a frequent cause of autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A PMID: 12499475
    29. This study shows the variability of the phenotype associated with mutations in GDAP1 gene in terms of associated signs and severity of Charcot-Marie-Tooth disease. PMID: 12868504
    30. This study detected six distinct mutant alleles in four families, four of which are novel. PMID: 14561495
    31. Genetic analysis revealed a homozygous thymidine deletion at nucleotide position 558 resulting in a frameshift at codon 186 and a stop codon at position 205. PMID: 15019704
    32. may be related to the maintenance of the mitochondrial network PMID: 15772096
    33. In this study we report a novel mutation Met116Thr in the GDAP1 gene identified in a three generation Polish family with axonal CMT4. PMID: 16343542
    34. The patient of Charcot-Marie-Tooth with pyramidal feature has GDAP1 mutation(M116R). PMID: 16607474
    35. Like other cytosolic GSTs, GDAP1 protein has a dimeric structure. deletion of C-terminal transmembrane domain allowed preparation of soluble protein. purified protein was assayed for glutathione-dependent activity against a library of GST substrates. PMID: 16857173
    36. Two different point mutations, a novel R191X nonsense and a L239F missense mutation were detected in the GDAP1 gene causing Charcot-Marie-Tooth neurpathy. PMID: 17433678
    37. A novel C233T transversion at codon 78 (P78L) was detected in 6 patients from 3 unrelated families. PMID: 18062449
    38. A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. PMID: 18231710
    39. A novel Pro153Leu mutation in the GDAP1 gene identified in a consanguineous Polish family as cause of Charcot-Marie-Tooth disease type 4C4. PMID: 18421898
    40. a novel GDAP1 mutation in an Old Order Amish family with autosomal recessive Charcot-Marie-Tooth disease. PMID: 18492089
    41. Data show that the mutations in the GDAP1 gene are a common cause of early-onset Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT). PMID: 18504680
    42. clinical, electrophysiologic & genetic study of 2 patients with missense GDAP1 mutations with severe neuropathy; 1 mutation (Tyr279Cys) has not been reported before; despite similitude of mutations & electromyography, clinical course was different PMID: 18991200
    43. Data suggest that besides the regulatory role GDAP1 plays in mitochondrial network dynamics, it may also be involved in energy production and in the control of mitochondrial volume. PMID: 19089472
    44. this GDAP1 region contains critical overlapping motifs defining intracellular targeting by the tail anchor domain concomitant with functional aspects PMID: 19340293
    45. Data report a novel missense mutation and two polymorphisms in the ganglioside-induced differentiation-associated protein 1 gene identified in a five generation Turkish family with autosomal recessive Charcot-Marie-Tooth type 2. PMID: 19381883
    46. GDAP1 mutations should be considered both in recessive and sporadic cases of early-onset axonal Charcot-Marie-Tooth disease PMID: 19500985
    47. Thirty sequence variants have been found in the analysed genes from patients with Charcot-Marie-Tooth disorders: 5 pathogenic mutations in the GDAP1 gene and 2 pathogenic mutations in the PRX gene. PMID: 19837996

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  • 相关疾病：
    Charcot-Marie-Tooth disease 4A (CMT4A); Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV); Charcot-Marie-Tooth disease 2K (CMT2K); Charcot-Marie-Tooth disease, recessive, intermediate type, A (CMTRIA)
  • 亚细胞定位：
    Mitochondrion outer membrane; Multi-pass membrane protein. Cytoplasm.
  • 蛋白家族：
    GST superfamily
  • 组织特异性：
    Highly expressed in whole brain and spinal cord. Predominant expression in central tissues of the nervous system not only in neurons but also in Schwann cells.
  • 数据库链接：

    HGNC: 15968

    OMIM: 214400

    KEGG: hsa:54332

    STRING: 9606.ENSP00000220822

    UniGene: Hs.168950