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GALT Recombinant Monoclonal Antibody

  • 货号：
    CSB-RA993143A0HU
  • 规格：
    ￥1320
  • 图片：
    • Overlay Peak curve showing HepG2 cells stained with CSB-RA993143A0HU (red line) at 1:100. The cells were fixed in 4% formaldehyde and permeated by 0.2% TritonX-100. Then 10% normal goat serum to block non-specific protein-protein interactions followed by the antibody (1ug/1*106cells) for 45min at 4℃. The secondary antibody used was FITC-conjugated Goat Anti-rabbit IgG(H+L) at 1:200 dilution for 35min at 4℃.Control antibody (green line) was rabbit IgG (1ug/1*106cells) used under the same conditions. Acquisition of >10,000 events was performed.
  • 其他：

产品详情

  • Uniprot No.：
    P07902
  • 基因名：
    GALT
  • 别名：
    Galactose-1-phosphate uridylyltransferase (Gal-1-P uridylyltransferase) (EC 2.7.7.12) (UDP-glucose--hexose-1-phosphate uridylyltransferase), GALT
  • 反应种属：
    Human
  • 免疫原：
    A synthesized peptide derived from human GALT
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Monoclonal
  • 抗体亚型：
    Rabbit IgG
  • 纯化方式：
    Affinity-chromatography
  • 克隆号：
    19E1
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Rabbit IgG in phosphate buffered saline, pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, FC
  • 推荐稀释比：
    Application Recommended Dilution
    FC 1:50-1:200
  • 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：
    Plays an important role in galactose metabolism.
  • 基因功能参考文献：
    1. GALT mutation is associated with galactosemia. PMID: 29252199
    2. The mutational spectrum of the GALT gene in Greek galactosemia patients is presented for the first time. PMID: 28644047
    3. novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family PMID: 28450132
    4. 17 VUS (37%; 7 in ACADM, 9 in GALT, and 1 in PAH) were reclassified from uncertain (6 to benign or likely benign and 11 to pathogenic or likely pathogenic). We identified common types of missing information that would have helped make a definitive classification and categorized this information by ease and cost to obtain PMID: 27308838
    5. we present the 1.9 A resolution crystal structure of human GALT (hGALT) ternary complex, revealing a homodimer arrangement that contains a covalent uridylylated intermediate and glucose-1-phosphate in the active site, as well as a structural zinc-binding site, per monomer PMID: 27005423
    6. A novel noncoding homozygous GALT variant associated with asymptomatic galactosemia has been described in an infant of consanguineous heterozygous parents. PMID: 25920691
    7. Mutation activates a cryptic donor splice site, inducing an aberrant splicing of the GALT pre-mRNA, which in turn leads to a frameshift with inclusion of a premature stop codon. PMID: 25052314
    8. GALT activity in red blood cells of patients with galactosaemia PMID: 25268296
    9. Novel missense mutations identified in Italian galactosemic patients. PMID: 25592817
    10. In Korean population, novel GALT mutations were identified in the galactosemia patients different from those of other populations. PMID: 25124065
    11. suggests that GALT mutations are ethnic-specific and that galactosemia is a heterogeneous disorder at the molecular level PMID: 24045215
    12. In this report, we present GALT gene mutations in 56 cases of galactosemia from Turkey identified using DNA microarray resequencing. PMID: 23924834
    13. Data suggest that in classic galactosemia residual GALT activity (predicted from activity of recombinant GALT matching patient's mutation) correlates with reduced ovarian reserve (as indicted by biological marker, circulating anti-Mullerian hormone). PMID: 23690308
    14. HGALT requires a level of flexibility to function optimally and that altered folding is the underlying reason of impairment in all the variants tested here. PMID: 23583749
    15. The study determined the frequency of the two most common GALT mutations and their variants in Indian galactosemia patients. PMID: 22798028
    16. The novel GALT gene mutations included 6 missense mutations viz. Y89H, Q103R, P166A, S181F, K285R, R333L; one nonsense mutation, S307X and 3 silent mutations--Q103Q, K210K and H319H. PMID: 23022339
    17. Forty four novel variations in the GALT gene were identified, among them 27 nucleotide substitutions, in the French cohort of galactosemic patients. PMID: 22944367
    18. Mutations of the galactose-1-phosphate uridyltranseferase gene is associated with galactosemia. PMID: 22963887
    19. Duarte1 (D1) and D2 genotypes of GALT do not appear to play a role in the association between galactose intake, possible ovarian dysfunction, and the link with ovarian cancer PMID: 22749219
    20. 3 different GALT mutations viz. Q188R, N314D and S307X were found to be present in the family of a neonate diagnosed with galactosemia and having the heterozygote genotype Q188R/S307X. S307X is a novel GALT mutation linked to galactosemia. PMID: 21188552
    21. Results suggest that classical galactosaemia shows low allelic heterogeneity in Mexican patients. PMID: 18956253
    22. Congenital eye abnormalities and galactosemia were found in a family with Q188R and G1391A mutations. PMID: 20222886
    23. GALT deletion mutation carrier frequency was 1 in 127 (0.79%). PMID: 21059483
    24. live birth incidence of classical galactosemia in Estonia is 1:19.700 PMID: 20151200
    25. The simulated point mutations have a direct effect on the active site, or on the dimer assembly and stability, or on the monomer stability. PMID: 20008339
    26. no effect seen of N314D GALT genotype on risk of borderline or invasive ovarian cancer PMID: 11936817
    27. Data found no association between congenital absence of the uterus and vagina (CAUV) and the N314D allele of the galactose-1-phosphate uridyl transferase (GALT) gene. PMID: 12606594
    28. Increased expression of Galactosyltransferase is associated with ovarian cancer PMID: 12851678
    29. association of decreased galactose-1-phosphate uridyltransferase activity with idiopathic presenile cataract PMID: 14707519
    30. children and adolescents with galactosemia function generally within the low average IQ range and have less well-developed executive functions. PMID: 15506833
    31. No statistically significant differences were observed in the allele frequencies between the infertile women and control groups for GALT PMID: 15749517
    32. Nine novel mutations in the GALT gene associated with Classical galctosemia are described. PMID: 15841485
    33. No association of GALT mutations is found in 86 patients with idiopathic premature ovarian failure. PMID: 16009197
    34. We postulate that molecular link between defective GALT enzyme, which result in classic galactosemia and the cerebroside galactosyl transferase, responsible for galactosylation of cerebrosides, is dependent on concentrations of UDP-galactose. PMID: 16125333
    35. no relationship was found between ovarian failure and GALT polymorphisms in Indian women PMID: 16274605
    36. no significant differences between women carrying at least one N314D or Q188R GALT allele and controls in IVF outcomes measured: numbers of follicles and oocytes obtained; fertilization rates and percentage of Grade A embryos; and pregnancy rates. PMID: 16595241
    37. analysis of classical galactosaemia mutations in GALT1 in Spain and Portugal PMID: 17041746
    38. analysis of a patient with galactose-1-phosphate uridyltransferase mutations p.Q188R and p.R333W and galactose metabolite levels during breast-feeding [case report] PMID: 17143577
    39. Identified novel mutations in GALT gene using DNA testing. PMID: 17876724
    40. The R204X mutation severely compromises both expression and function of human GALT;T268N is one of a very small number of naturally occurring rare but neutral missense polymorphisms in human GALT. PMID: 18210213
    41. Synergistic effect of GALT and lactase mutations on cataract formation. PMID: 18454942
    42. 4 bp 5' deletion in GALT is a causal mutation in Duarte galactosemia. PMID: 19224951
    43. Galactose-1-phosphate uridyl transferase deficiency is not associated with Mullerian aplasia in Dutch patients PMID: 19646668

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  • 相关疾病：
    Galactosemia (GALCT)
  • 蛋白家族：
    Galactose-1-phosphate uridylyltransferase type 1 family
  • 数据库链接：

    HGNC: 4135

    OMIM: 230400

    KEGG: hsa:2592

    STRING: 9606.ENSP00000368119

    UniGene: Hs.522090