GALNS Antibody, Biotin conjugated

說(shuō)明書(shū)

中文名稱(chēng)：

GALNS兔多克隆抗體, Biotin偶聯(lián)
貨號(hào)：

CSB-PA009202ED01HU
規(guī)格：

￥880
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

產(chǎn)品名稱(chēng)：

Rabbit anti-Homo sapiens (Human) GALNS Polyclonal antibody
Uniprot No.：

P34059
基因名：

GALNS
別名：

GALNSN-acetylgalactosamine-6-sulfatase antibody; EC 3.1.6.4 antibody; Chondroitinsulfatase antibody; Chondroitinase antibody; Galactose-6-sulfate sulfatase antibody; GalN6S antibody; N-acetylgalactosamine-6-sulfate sulfatase antibody; GalNAc6S sulfatase antibody
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human N-acetylgalactosamine-6-sulfatase protein (27-522AA)
免疫原種屬：

Homo sapiens (Human)
標(biāo)記方式：

Biotin
克隆類(lèi)型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

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

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA
Protocols：

ELISA Protocol
儲(chǔ)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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

基因功能參考文獻(xiàn)：
1. Enzyme replacement therapy (ERT) with recombinant human GALNS (elosulfase alfa, Vimizim(R), BioMarin Pharmaceutical Inc., Novato, CA) has recently been approved as a treatment option for Morquio A. Elosulfase alfa enzyme replacement therapy associated with long-term endurance improvements in Morquio A. PMID: 27380995
2. Missense mutation of GALNS is associated with mucopolysaccharidosis type IV A. PMID: 28397226
3. Clinical evaluation and biochemical GALNS enzyme activity determination were carried out for the patients from four unrelated Egyptian families. Sequence analysis revealed four novel mutations; three nonsense mutations (p.Q12X, p.Q220X, p.Y254X) and one missense mutation, p.D40G. All four patients were offspring of consanguineous marriages and were homozygous for the corresponding mutation. PMID: 27825773
4. A new GALNS intronic lesion was characterized: c.245-11C>G causing m-RNA defects, although identified outside the GT/AG splice pair. PMID: 25545067
5. The goals were to analyze and characterize the secondary structure, regions of intrinsic disorder and physicochemical characteristics of three classes of mutations described in the enzyme N-acetylgalactosamine-6-sulfatase. PMID: 25501214
6. A review of mutations in the GALNS gene associated with Morquio A syndrome. PMID: 25137622
7. Molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GALNS gene believed to negatively impact GALNS protein function. PMID: 24726177
8. 2 unrelated Turkish patients had 2 homozygous known mutations: p.L390X in exon 11 and p.W141R in exon 4. The p L390X mutation was associated with 4 novel polymorphisms in intron 2, intron 5 and intron 6 and a known polymorphism in exon 7. PMID: 24411403
9. Here we present 53 mutations including 19 novel mutations in GALNS gene in a cohort of 55 patients PMID: 23876334
10. GALNS gene 5 new mutations: p.N177S, p.G290R, p.F306S, p.W520X, p.W403_T404delinsCS in the mucopolysaccharidosis IVA patients in South China PMID: 24035930
11. Novel mutations in the GALNS gene associated with mucopolysaccharidosis IVA in Korean patients. PMID: 23401410
12. missense mutation in GALNS is associated with a severe form of mucopolysaccharidosis type IVA. PMID: 23313879
13. Comparison of the structure of GALNS to paralogous sulfatases shows a wide variety of active-site geometries in the family but strict conservation of the catalytic machinery PMID: 22940367
14. Screening of mutations and polymorphisms in GALNS gene provide useful information on genotype/phenotype correlations. PMID: 22078177
15. Mucopolysaccharidosis type IVA or Morquio A syndrome is characterized by the lack of N-acetylgalactosamine-6-sulfate-sulfatase and the accumulation of keratan sulfate and chondroitin-6-sulfate in the lysosomes. PMID: 21251309
16. GALNS mutations are associated with Mucopolysaccharidosis IVA. PMID: 20574428
17. 6-bp deletion in exon 1 of GALNS gene. PMID: 11524742
18. Beside mutations, one previously identified E477 polymorphism and one novel W520 polymorphism were found among Turkish MPS IVA patients. PMID: 12442278
19. Mutation 1374delT introduces premature termination of GALNS, causing mucopolysaccharidosis IVA. PMID: 12721840
20. Ten novel mutations in GALNS in Italian Mucopolysaccharidosis IVA patients. PMID: 15241807
21. 26 novel mutations within the GALNS gene are associated with mucopolysaccharidosis IVA. A genotype/phenotype correlation was defined in some mutations. PMID: 16287098
22. GALNS mutations in six severe Mucopolysaccharidosis type IVA (MPS IVA) patients from four unrelated Tunisian families. PMID: 16378744
23. effect of repeated intra-articular injections (IA INJ) of recombinant human acetylgalactosamine-4-sulfatase on degenerative joint disease in an animal model. PMID: 17544310
24. In mucopolysaccharidosis IVA 'attenuated' mutant enzymes are heterogeneous in molecular phenotypes, including biochemical properties and tertiary structure. PMID: 17876718
25. modification of expression of the lysosomal sulfatases ASB and GALNS regulates the content of CSs. PMID: 18285341
26. This paper focuses on the study of the GALNS gene and mRNAs in two severe forms of Morquio A patients' fibroblasts. PMID: 18710657
27. Results describe the quantitative relationship between the mutant N-acetylgalactosamine-6-sulfatase and the occurrence of mucopolysaccharidosis IVA. PMID: 19373925
28. Deficiency in N-acetylgalactosamine-6-sulfate sulfatase has an impact on the phenotypic properties of chondrocytes, resulting in the formation of cartilage that is more prone to degeneration. PMID: 19394256
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相關(guān)疾病：

Mucopolysaccharidosis 4A (MPS4A)
亞細(xì)胞定位：

Lysosome.
蛋白家族：

Sulfatase family
數(shù)據(jù)庫(kù)鏈接：

HGNC: 4122

OMIM: 253000

KEGG: hsa:2588

STRING: 9606.ENSP00000268695

UniGene: Hs.271383

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