GALT Recombinant Monoclonal Antibody

說明書

中文名稱：

GALT重組抗體
貨號：

CSB-RA993143A0HU
規格：

￥1320
圖片：
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：

產品詳情
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靶點詳情

產品詳情

產品描述：

CSB-RA993143A0HU GALT重組單克隆抗體是針對半乳糖-1-磷酸尿苷酰轉移酶（GALT）研發的高特異性免疫檢測試劑，該酶是糖代謝通路中的關鍵催化酶，負責將半乳糖-1-磷酸轉化為葡萄糖-1-磷酸，其功能缺陷與遺傳性代謝疾病密切相關。本產品經ELISA和流式細胞術（FC）雙重平臺驗證，在FC應用中推薦使用1:50-1:200稀釋比例，實驗數據顯示其能特異性識別天然及重組GALT蛋白，且不同批次間具有良好的一致性。抗體采用重組表達技術生產，具備高批間穩定性和低交叉反應性，適用于半乳糖代謝機制研究、疾病相關基因功能探索以及體外細胞模型中酶活性調控分析等科研領域，為代謝性疾病的基礎研究提供可靠工具。
Uniprot No.：

P07902
基因名：

GALT
別名：

Galactose-1-phosphate uridylyltransferase (Gal-1-P uridylyltransferase) (EC 2.7.7.12) (UDP-glucose--hexose-1-phosphate uridylyltransferase), GALT
反應種屬：

Human
免疫原：

A synthesized peptide derived from human GALT
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
克隆類型：

Monoclonal
抗體亞型：

Rabbit IgG
純化方式：

Affinity-chromatography
克隆號：

19E1
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Rabbit IgG in 10mM phosphate buffered saline , pH 7.4, 150mM sodium chloride, 0.05% BSA, 0.02% sodium azide and 50% glycerol.
產品提供形式：

Liquid
應用范圍：

ELISA, FC

推薦稀釋比：

Application	Recommended Dilution
FC	1:50-1:200

Protocols：

ELISA Protocol
Flow cytometry (FC) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Plays an important role in galactose metabolism.
基因功能參考文獻：
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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相關疾病：

Galactosemia (GALCT)
蛋白家族：

Galactose-1-phosphate uridylyltransferase type 1 family
數據庫鏈接：

HGNC: 4135

OMIM: 230400

KEGG: hsa:2592

STRING: 9606.ENSP00000368119

UniGene: Hs.522090

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