HOXD13 Antibody
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中文名稱：HOXD13兔多克隆抗體
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貨號：CSB-PA010685GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：HOXD13
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別名：HOXD13 antibody; HOX4I antibody; Homeobox protein Hox-D13 antibody; Homeobox protein Hox-4I antibody
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宿主：Rabbit
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反應種屬：Human,Mouse,Rat
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免疫原：Human HOXD13
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB,IHC
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期：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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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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.
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基因功能參考文獻：
- 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
- 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
- down-regulation of HOXD13 might be a potentially useful prognostic marker for patients with breast cancer. PMID: 26617867
- A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. PMID: 26581570
- HOXD13 methylation is a common event in primary breast cancer and is associated with poor survival of breast cancer patients. PMID: 26617782
- A 27 bp expansion mutation in exon 1 of HOXD13 was associated with autosomal dominant synpolydactyly in a Chinese family. PMID: 26252089
- 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
- Identification of a novel c.659G>C (p.Gly220Ala) mutation outside the HOXD13 homeodomain responsible for synpolydactyly in a Chinese family. PMID: 23948678
- 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
- Molecular characteristics of a HOXD13 synpolydactyly 1 nonsense mutation in a Chinese family. PMID: 24055421
- 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
- Misexpression of HOXD13(G11A) in the developing chick limb phenocopied the human SPD phenotype PMID: 22373878
- This finding expands the phenotypic spectrum associated with HOXD13 mutations and advances our understanding of human limb development. PMID: 22374128
- Correlation between Synpolydactyly and alanine expansion in HOXD13. PMID: 22406499
- HOXD13 gene mutation was responsible for the synpolydactyly (SPD) phenotype in this family. PMID: 22161087
- 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
- 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
- Variable skeletal phenotype in 2q31 deletion patients is a result of hemizygosity for the HOXD genes. PMID: 21068127
- 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
- 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
- Missense mutations in this protein are associated with brachydactyly types D and E. PMID: 12649808
- 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
- Results suggest that synpolydactyly in this kindred may be caused by polyalanine expansion in HOXD13. PMID: 15952114
- Data show that HOXD13 are important susceptible genes of idiopathic congenital talipes equinovarus. PMID: 16331564
- 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
- findings strongly suggest that specific mutations in HOXD13 gene may cause both hypoplastic synpolydactyly and hypospadias PMID: 17656229
- Early human development shows spatiotemporal differences of HOXD13 expression in the endodermal and mesodermal structures. PMID: 17853405
- 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
- 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
- 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
- transgenic mice expressing NUP98-HOXD13 (NHD13) fusion gene develop myelodysplastic syndrome, and more than half eventually progress to acute leukemia PMID: 18566322
- 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
- G220V missense mutation of HOXD13 caused synpolydactyly in a Greek family. PMID: 19060004
- 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
- Geminin, which interacts with HOXD13 as well, blocks HOXD13-mediated assembly of pre-replication complex proteins and inhibits HOXD13-induced DNA replication. PMID: 19703996
- Gene Structure and Report of Nine Polyalanine Duplications in Families with Synpolydactyly, Type II PMID: 8817328
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相關疾病：Synpolydactyly 1 (SPD1); Brachydactyly D (BDD); Syndactyly 5 (SDTY5); Brachydactyly-syndactyly syndrome (BDSD); Brachydactyly E1 (BDE1); VACTERL association (VACTERL); Brachydactyly-syndactyly-oligodactyly syndrome (BDSDO)
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亞細胞定位：Nucleus.
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蛋白家族：Abd-B homeobox family
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數據庫鏈接：
