GALT Antibody
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中文名稱：GALT兔多克隆抗體
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貨號：CSB-PA009226GA01HU
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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：GALT
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別名：Gal 1 P uridylyltransferase antibody; Gal-1-P uridylyltransferase antibody; Galactose 1 phosphate uridyl transferase antibody; Galactose 1 phosphate uridylyltransferase antibody; Galactose-1-phosphate uridylyltransferase antibody; GALT antibody; GALT_HUMAN antibody; UDP glucose hexose 1 phosphate uridylyltransferase antibody; UDP-glucose--hexose-1-phosphate uridylyltransferase 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 GALT
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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：Plays an important role in galactose metabolism.
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基因功能參考文獻：
- GALT mutation is associated with galactosemia. PMID: 29252199
- The mutational spectrum of the GALT gene in Greek galactosemia patients is presented for the first time. PMID: 28644047
- novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family PMID: 28450132
- 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
- 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
- A novel noncoding homozygous GALT variant associated with asymptomatic galactosemia has been described in an infant of consanguineous heterozygous parents. PMID: 25920691
- 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
- GALT activity in red blood cells of patients with galactosaemia PMID: 25268296
- Novel missense mutations identified in Italian galactosemic patients. PMID: 25592817
- In Korean population, novel GALT mutations were identified in the galactosemia patients different from those of other populations. PMID: 25124065
- suggests that GALT mutations are ethnic-specific and that galactosemia is a heterogeneous disorder at the molecular level PMID: 24045215
- In this report, we present GALT gene mutations in 56 cases of galactosemia from Turkey identified using DNA microarray resequencing. PMID: 23924834
- 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
- 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
- The study determined the frequency of the two most common GALT mutations and their variants in Indian galactosemia patients. PMID: 22798028
- 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
- Forty four novel variations in the GALT gene were identified, among them 27 nucleotide substitutions, in the French cohort of galactosemic patients. PMID: 22944367
- Mutations of the galactose-1-phosphate uridyltranseferase gene is associated with galactosemia. PMID: 22963887
- 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
- 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
- Results suggest that classical galactosaemia shows low allelic heterogeneity in Mexican patients. PMID: 18956253
- Congenital eye abnormalities and galactosemia were found in a family with Q188R and G1391A mutations. PMID: 20222886
- GALT deletion mutation carrier frequency was 1 in 127 (0.79%). PMID: 21059483
- live birth incidence of classical galactosemia in Estonia is 1:19.700 PMID: 20151200
- 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
- no effect seen of N314D GALT genotype on risk of borderline or invasive ovarian cancer PMID: 11936817
- 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
- Increased expression of Galactosyltransferase is associated with ovarian cancer PMID: 12851678
- association of decreased galactose-1-phosphate uridyltransferase activity with idiopathic presenile cataract PMID: 14707519
- children and adolescents with galactosemia function generally within the low average IQ range and have less well-developed executive functions. PMID: 15506833
- No statistically significant differences were observed in the allele frequencies between the infertile women and control groups for GALT PMID: 15749517
- Nine novel mutations in the GALT gene associated with Classical galctosemia are described. PMID: 15841485
- No association of GALT mutations is found in 86 patients with idiopathic premature ovarian failure. PMID: 16009197
- 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
- no relationship was found between ovarian failure and GALT polymorphisms in Indian women PMID: 16274605
- 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
- analysis of classical galactosaemia mutations in GALT1 in Spain and Portugal PMID: 17041746
- 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
- Identified novel mutations in GALT gene using DNA testing. PMID: 17876724
- 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
- Synergistic effect of GALT and lactase mutations on cataract formation. PMID: 18454942
- 4 bp 5' deletion in GALT is a causal mutation in Duarte galactosemia. PMID: 19224951
- 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)
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蛋白家族：Galactose-1-phosphate uridylyltransferase type 1 family
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