POMGNT1 Antibody, Biotin conjugated

說明書

中文名稱：

POMGNT1兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA855513LD01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) POMGNT1 Polyclonal antibody
Uniprot No.：

Q8WZA1
基因名：

POMGNT1
別名：

2-N-acetylglucosaminyltransferase 1 antibody; 2-N-acetylglucosaminyltransferase I.2 antibody; GnT I.2 antibody; GnTI.2 antibody; MEB antibody; MGAT 1.2 antibody; MGAT1.2 antibody; O linked mannose beta1 2 N acetylglucosaminyltransferase antibody; PMGT1_HUMAN antibody; POMGNT 1 antibody; POMGnT1 antibody; Protein O linked mannose beta 1 2 N acetylglucosaminyltransferase 1 antibody; Protein O linked mannose beta1 2 N acetylglucosaminyltransferase antibody; Protein O-linked-mannose beta-1 antibody; UDP GlcNAc antibody; UDP GlcNAc:alpha D mannoside beta 1 2 N acetylglucosaminyltransferase I.2 antibody; UDP-GlcNAc:alpha-D-mannoside beta-1 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 protein (59-300AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
克隆類型：

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
產品提供形式：

Liquid
應用范圍：

ELISA
Protocols：

ELISA 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：

Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins. Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.
基因功能參考文獻：
1. These findings demonstrate that PomGnT1 might be a new focus of glioblastoma (GBM)research for treatment of recurrent Temozolomide -resistant GBM PMID: 29048655
2. The authors have identified a novel mutation in POMGNT1 that causes nonsyndromic autosomal recessive retinitis pigmentosa, adding to the genetic heterogeneity of this retinal disease. PMID: 27391550
3. Study identified recessive POMGNT1 mutations in three unrelated non-syndromic retinitis pigmentosa families showing significant impaired POMGNT1 enzymatic activity. PMID: 26908613
4. When association tests were applied to data from the Diabetes Heart Study, it found exome variants of POMGNT1 and JAK1 genes were associated with type 2 diabetes. PMID: 26783077
5. POMGNT1 Is Glycosylated by Mucin-Type O-Glycans PMID: 26328495
6. study presents clinical, neuroradiological, and POMGNT1 findings in 12 muscle-eye-brain disease patients of Turkish origin from 10 families; suggests a genotype-phenotype correlation PMID: 24731844
7. Data indicate that Golgi phosphoprotein 3 (GOLPH3) binds to and controls the Golgi localization of protein O-linked mannose beta-1,2-N-acetlyglucosaminyltransferase 1 (POMGnT1). PMID: 24733390
8. Identification of novel POMGnT1 mutations in Chinese patients with muscle-eye-brain disease. PMID: 23689641
9. POMGnT1 point mutations and protein expression are associated with variably severe muscle-eye-brain disease showing that severity of the phenotype does not correlate with protein expression. PMID: 22554691
10. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. PMID: 22419172
11. This study demonistreated that Intragenic rearrangements in POMGNT1 gene in muscle-eye-brain disease. PMID: 21727005
12. these results show that the amino acid sequence affects POMGnT1 activity. PMID: 21684258
13. This study gives a comprehensive biochemical evaluation of all clinically relevant POMGnT1 point mutations known to date, which have been linked to muscle-eye-brain disease or similar conditions. PMID: 21361872
14. the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis PMID: 20816175
15. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the MEB locus, in three Tunisian patients PMID: 12467726
16. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. 13 mutations have been identified in patients with MEB. The mutant POMGnT1s were expressed and none had any activity. PMID: 12788071
17. Results describe the identification of a novel O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene missense mutation in muscle-eye-brain disease. PMID: 15236414
18. DNA mutational analysis and phenotypes in patients with muscle-eye-brain disease PMID: 15466003
19. Our results suggest that PomGnT1, enzymes involved in the O-mannosyl glycosylation pathway, play an active role in modulating integrin and laminin-dependent adhesion and migration of human neuronal cells. PMID: 16857188
20. In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations. PMID: 17869517
21. report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene; a 6-year-old sibling has a severe form of muscle-eye-brain (MEB) disease; the same mutation resulted in a less severe form of MEB in the older sibling PMID: 17881266
22. data suggest mutational hotspots within the minimal catalytic domain at arginine residue 442 (exon 16) and in intron 17 PMID: 17906881
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相關疾病：

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3); Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3); Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3); Retinitis pigmentosa 76 (RP76)
亞細胞定位：

Golgi apparatus membrane; Single-pass type II membrane protein.
蛋白家族：

Glycosyltransferase 13 family
組織特異性：

Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.
數據庫鏈接：

HGNC: 19139

OMIM: 253280

KEGG: hsa:55624

STRING: 9606.ENSP00000361052

UniGene: Hs.525134

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