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FKRP Antibody

  • 货号：
    CSB-PA862050LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • IHC image of CSB-PA862050LA01HU diluted at 1:400 and staining in paraffin-embedded human ovarian cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
    • IHC image of CSB-PA862050LA01HU diluted at 1:400 and staining in paraffin-embedded human placenta tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) FKRP Polyclonal antibody
  • Uniprot No.：
    Q9H9S5
  • 基因名：
  • 别名：
    Fkrp antibody; FKRP_HUMAN antibody; FLJ12576 antibody; Fukutin related protein antibody; Fukutin-related protein antibody; LGMD2I antibody; MDC1C antibody; MGC2991 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Fukutin-related protein (28-140AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，FKRP Antibody (CSB-PA862050LA01HU)，的标记方式是Non-conjugated。对于FKRP Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA862050LB01HU FKRP Antibody, HRP conjugated ELISA
    FITC CSB-PA862050LC01HU FKRP Antibody, FITC conjugated
    Biotin CSB-PA862050LD01HU FKRP Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:200-1:500
  • 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：
    Catalyzes the transfer of CDP-ribitol to ribitol 5-phosphate previously attached by FKTN/fukutin of to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). This constitutes the second step in the formation of the ribose 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1.
  • 基因功能参考文献：
    1. The FKRP-related disorders should be included as a differential diagnosis in Mexican patients with neuromuscular disorders and normal results on DMD gene deletion/duplication analysis. This and previous reports, along with data from the main genotype databases, collectively suggest that in Mexico the FKRP-related disorders are due to the p.(Asn463Asp) and the common European p.(Leu276Ile) pathogenic variants. PMID: 29065428
    2. The results suggest that fukutin and FKRP not only participate in the synthesis of O-mannosyl glycans added to alpha-dystroglycan in the endoplasmic reticulum and Golgi complex, but that they could also play a role, that remains to be established, in the nucleus of retinal neurons. PMID: 29416295
    3. This literature review revealed that pathogenic mutations in the FKRP gene in Asian LGMD2I patients are compound heterozygous rather than homozygous. PMID: 28931339
    4. Next generation and Sanger sequencing were performed for I-2. Heterozygous FKRP mutations were identified in exon 4: c.1167_1168delGC, p.Gly391Leufs *72 and c.501_502GT>CC, p.Arg167Ser, p.Cys168Arg PMID: 28629604
    5. Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function. PMID: 29477842
    6. This study have demonstrated that the clinical heterogeneity in LGMD2I patients, homozygous for FKRP c.826C>A, cannot be explained by histopathological alterations, levels of alpha-DG hypoglycosylation or laminin alpha2 depletion. PMID: 28479227
    7. Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice PMID: 27711214
    8. The 13 novel mutations of FKRP significantly expanded the mutation spectrum of MDC1C and LGMD2I, and the different founder mutations indicate the ethnic difference in FKRP mutations. PMID: 27439679
    9. Fukutin and fukutin-related protein are sequentially acting Rbo5P transferases that use cytidine diphosphate ribitol. PMID: 26923585
    10. Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication. PMID: 26810512
    11. This provide a new mouse model of Limb-Girdle Muscular Dystrophy Type 2I homozygous for the Common L276I Mutation. PMID: 26574668
    12. This study demonistrated that the higher frequency of LGMD2I with cardiomyopathy in mutation of FKRP in Taiwanese patients. PMID: 23800702
    13. FKRP co-localises with the middle-to-trans-Golgi marker MG160, between the myofibrils in human rectus femoris muscle fibres. PMID: 21886772
    14. Mutations in FKRP lead to a glycosylation defect and subsequently downregulation of alpha-dystroglycan which constitutes an essential component of the proteoglycan-dystrophin complex. PMID: 21311896
    15. Study revealed a large homozygous block at the LGMD2I locus, and direct sequencing of FKRP encoding fukutin-related-protein detected the common homozygous c.826 C>A (p.Leu276Ile) mutation. PMID: 21172462
    16. Two novel heterozygous mutations (c.208T>A and c.1030G>T) in the FKRP gene were identified in Chinese brothers with progressive shoulder and pelvic muscle weakness PMID: 21296577
    17. This study identified FKRP mutations on both alleles in 88 patients from 69 families with Limb Girdle Muscular Dystrophy Type 2I. PMID: 20961759
    18. two siblings carrying a homozygous mutation in the start codon of FKRP that is likely to result in a loss of functional FKRP protein. The clinical phenotype of the patients was consistent with Walker-Warburg syndrome PMID: 20236121
    19. our study confirms that typical clinical symptoms (calf hypertrophy, cardiac involvement, mild LGMD) of LGMD2I due the homozygous c.826C[A mutation, are rather frequent in Germany PMID: 19820980
    20. Co-injection of fish or human FKRP mRNA along with the morpholino restored normal development and alpha-dystroglycan glycosylation. PMID: 19955119
    21. Alteration of the secretion pathway by different mutations may contribute to wide variations in phenotypes associated with FKRP-related diseases such as muscular dystrophy. PMID: 19900540
    22. FKRP mutations can result in muscular dystrophy with mental retardation & cerebellar cysts, adding structural brain defects to the FKRP mutation spectrum. Depletion of alpha-dystroglycan expression suggests FKRP involvement in its processing. PMID: 12654965
    23. patients with mutations in the fukutin-related protein (FKPR) gene had congenital muscular dystrophy PMID: 12666124
    24. particular FKRP mutations in the homozygous state induce structural and clinical neurological lesions in addition to muscular dystrophy PMID: 14652796
    25. Data suggest that fukutin and fukutin-related protein (FKRP) may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan, and FKRP is most likely involved in the initial step in this synthesis. PMID: 15213246
    26. pathogenesis of congenital muscular dystrophies, severity is related to ability to transport protein to ER PMID: 15574464
    27. a type of LGMD in the Hutterite population maps to chromosome 19q31-q33 and is due to homozygosity for the L276I mutation in FKRP. PMID: 15580560
    28. Three siblings without clinical signs of muscle dystrophy, but with dilated cardiomyopathy have C826A Fukutin-related protein mutation. PMID: 15833432
    29. A FKRP point mutation, L276I has been found in all patients with LGMD2I studied so far. The s screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I. PMID: 15883334
    30. Retention in the endoplasmic reticulum of FKRP is not the main mechanism of disease; this may instead relate to a disruption of the functional activity of this putative enzyme with its substrate(s) in the Golgi. PMID: 16055117
    31. FKRP mutations are a frequent cause of limb-girdle muscular dystrophies. The degree of respiratory and cardiac insufficiency in patients did not correlate with the severity of muscle involvement. PMID: 16344347
    32. A novel FKRP gene((c.823C>T (p.R275C) and c.948delC)mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I PMID: 17055682
    33. We report a limb-girdle muscular dystrophy 2I family with three affected sisters and a highly variable clinical course. FKRP gene sequencing showed that all three sisters carried a nonsense paternal mutation (W225X). PMID: 17113772
    34. two unrelated Mexican children with congenital muscular dystrophy who each have the identical, novel 1387A>G, N463D mutation. PMID: 17336067
    35. 3 new FKRP mutations were identified: L322V, L489R and R275G. PMID: 17351538
    36. Limb-girdle muscular dystrophy (LGMD) type 2I, caused by mutations in the fukutin-related protein gene (FKRP). PMID: 17446099
    37. The unfolded protein response is activated in LGMD2I muscle biopsies in limb girdle muscular dystrophy type 2I. PMID: 17952692
    38. severe dilated cardiomyopathy requiring heart transplantation in a homozygous p.Leu276Ile mutation in Fukutin-related protein gene (FKRP) PMID: 18060779
    39. findings detected a homozygous mutation of the FKRP gene (826C>A) in two unrelated patients with limb-girdle muscular dystrophy 2I with necrotic myopathy with numerous rimmed vacuoles PMID: 18593008
    40. In our population of LGMD2I patients, different mutations in the FKRP gene are associated with several secondary muscle protein reductions, and the deficiencies of alpha2-laminin and alpha-DG on sections are prevalent. PMID: 18645206
    41. Data show that four sibs belonging to a second Tunisian LGMD2I family show variable cardiac involvement with FKRP gene mutations. PMID: 18671187
    42. mutation spectrum associted with limb-girdle muscular dystrophy variability and serverity PMID: 19917824
    43. Limb girdle muscular dystrophy 2I is a milder allelic variant of MDC1C. PMID: 11741828

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  • 相关疾病：
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5); Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5); Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
  • 亚细胞定位：
    Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Cell membrane, sarcolemma. Rough endoplasmic reticulum. Cytoplasm.
  • 蛋白家族：
    LicD transferase family
  • 组织特异性：
    Expressed in the retina (at protein level). Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver, kidney, and pancreas.
  • 数据库链接：

    HGNC: 17997

    OMIM: 606596

    KEGG: hsa:79147

    STRING: 9606.ENSP00000326570

    UniGene: Hs.515493