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HOXD13 Antibody

  • 货号：
    CSB-PA035233
  • 规格：
    ￥1100
  • 图片：
    • Gel: 8%SDS-PAGE,Lysate: 40 μg,,Primary antibody: CSB-PA035233(HOXD13 Antibody) at dilution 1/200 dilution,Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution,Exposure time: 30 seconds
  • 其他：

产品详情

  • Uniprot No.：
    P35453
  • 基因名：
    HOXD13
  • 别名：
    HOXD13 antibody; HOX4I antibody; Homeobox protein Hox-D13 antibody; Homeobox protein Hox-4I antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthetic peptide of Human HOXD13
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:2000-1:5000
    WB 1:500-1:2000
  • 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：
    Sequence-specific transcription factor that binds gene promoters and activates their transcription. Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
  • 基因功能参考文献：
    1. The results suggest that the c.917G>A (p.R306Q) mutation in the HOXD13 gene, may be responsible for syndactyly type Ic in this family. PMID: 28498426
    2. a novel mutation causing truncation of HOXD13 protein was successfully identified as being associated with an atypical non-syndromic SPD phenotype in our study. PMID: 27254532
    3. down-regulation of HOXD13 might be a potentially useful prognostic marker for patients with breast cancer. PMID: 26617867
    4. A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. PMID: 26581570
    5. HOXD13 methylation is a common event in primary breast cancer and is associated with poor survival of breast cancer patients. PMID: 26617782
    6. A 27 bp expansion mutation in exon 1 of HOXD13 was associated with autosomal dominant synpolydactyly in a Chinese family. PMID: 26252089
    7. Linkage analysis of the syndactyly type 1 subtype c (SD1-c) phenotype based on two Chinese families with 3/4 fingers syndactyly shows that two missense mutations in codon 306 of HOXD13 underlie SD1-c. PMID: 24789103
    8. Identification of a novel c.659G>C (p.Gly220Ala) mutation outside the HOXD13 homeodomain responsible for synpolydactyly in a Chinese family. PMID: 23948678
    9. Data indicate increased levels of reactive oxygen species (ROS) were detected in bone marrow nucleated cells (BMNC) that express CD71 in in NUP98-HOXD13 (NHD13) transgenic mice, a murine model for myelodysplastic syndromes (MDS). PMID: 23958061
    10. Molecular characteristics of a HOXD13 synpolydactyly 1 nonsense mutation in a Chinese family. PMID: 24055421
    11. findings show that expression of NUP98-HOXD13 impairs class switch recombination and reduces the antibody-mediated immune response, in addition to its role in leukemia PMID: 22613470
    12. Misexpression of HOXD13(G11A) in the developing chick limb phenocopied the human SPD phenotype PMID: 22373878
    13. This finding expands the phenotypic spectrum associated with HOXD13 mutations and advances our understanding of human limb development. PMID: 22374128
    14. Correlation between Synpolydactyly and alanine expansion in HOXD13. PMID: 22406499
    15. HOXD13 gene mutation was responsible for the synpolydactyly (SPD) phenotype in this family. PMID: 22161087
    16. results show the first nonsense mutation in the HOXD13 gene underlying a severe form of SPD in the homozygous state, and a milder form of SPD with approximately 50% penetrance in the heterozygous state. PMID: 21814222
    17. a duplication mutation, c. 186-212dup, in exon 1 of the HOXD13 gene in the affected individuals in a Chinese family with unusual clinical manifestations of synpolydactyly PMID: 20974300
    18. Variable skeletal phenotype in 2q31 deletion patients is a result of hemizygosity for the HOXD genes. PMID: 21068127
    19. results expand the spectrum of HOXD13 mutations;suggest that not only the size of the polyalanine repeat but also other unknown factors might play a role in synpolydactyly PMID: 19686284
    20. Data show that a mutant HOXD13 protein that recognizes only a subset of sites recognized by the wild-type protein causes a novel human limb malformation. PMID: 12620993
    21. Missense mutations in this protein are associated with brachydactyly types D and E. PMID: 12649808
    22. This is the first report on prenatal diagnosis of Synpolydactyly by detecting the HOXD13 polyalanine expansion in the Han population of the Chinese mainland. PMID: 15696469
    23. Results suggest that synpolydactyly in this kindred may be caused by polyalanine expansion in HOXD13. PMID: 15952114
    24. Data show that HOXD13 are important susceptible genes of idiopathic congenital talipes equinovarus. PMID: 16331564
    25. There is a link between HOXD13 and two additional limb phenotypes--syndactyly type V and brachydactyly type A4--and demonstrated that a polyalanine contraction in HOXD13, most likely, led to other digital anomalies but not to synpolydactyly. PMID: 17236141
    26. findings strongly suggest that specific mutations in HOXD13 gene may cause both hypoplastic synpolydactyly and hypospadias PMID: 17656229
    27. Early human development shows spatiotemporal differences of HOXD13 expression in the endodermal and mesodermal structures. PMID: 17853405
    28. We showed that SPD1 phenotype segregates with an identical expansion mutation of 21 bp in HOXD13. We show that HOXD13 polyalanine repeat is polymorphic, and the expansion of 2 alanine residues, is without clinical consequences. PMID: 18072967
    29. The results shows that HOXD13 gene mutation was not involved in outbreak in idiopathic congenital talipes equinovarus, but changes of HOXD13 and FHL1 gene expression related to the development of talipes equinovarus malformation. PMID: 18244901
    30. analysis of HOXD13 in 100 patients with limb malformations; 7 novel mutations in the coding region & 2 novel mutations in the 5'-untranslated region were identified PMID: 18399101
    31. transgenic mice expressing NUP98-HOXD13 (NHD13) fusion gene develop myelodysplastic syndrome, and more than half eventually progress to acute leukemia PMID: 18566322
    32. Hoxd13 and Fhl1 were expressed in the interdigital tissues of E12.5 rat embryo. Luciferase assay and EMSA identified a novel promoter region of Fhl1 that directly interacts with Hoxd13 PMID: 18758158
    33. G220V missense mutation of HOXD13 caused synpolydactyly in a Greek family. PMID: 19060004
    34. Detection of the HOXD13 homeoprotein in pancreas-tissue microarrays shows that its negative expression has a significant and adverse effect on the prognosis of patients with pancreatic cancer. PMID: 19488988
    35. Geminin, which interacts with HOXD13 as well, blocks HOXD13-mediated assembly of pre-replication complex proteins and inhibits HOXD13-induced DNA replication. PMID: 19703996
    36. Gene Structure and Report of Nine Polyalanine Duplications in Families with Synpolydactyly, Type II PMID: 8817328

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  • 相关疾病：
    Synpolydactyly 1 (SPD1); Brachydactyly D (BDD); Syndactyly 5 (SDTY5); Brachydactyly-syndactyly syndrome (BDSD); Brachydactyly E1 (BDE1); VACTERL association (VACTERL); Brachydactyly-syndactyly-oligodactyly syndrome (BDSDO)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    Abd-B homeobox family
  • 数据库链接：

    HGNC: 5136

    OMIM: 113200

    KEGG: hsa:3239

    STRING: 9606.ENSP00000376322

    UniGene: Hs.152414