ISPD Antibody, FITC conjugated

說明書

中文名稱：

ISPD兔多克隆抗體, FITC偶聯
貨號：

CSB-PA388827LC01HU
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) ISPD Polyclonal antibody
Uniprot No.：

A4D126
基因名：

ISPD
別名：

2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein antibody; Isoprenoid synthase domain-containing protein antibody; ispD antibody; ISPD_HUMAN antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Isoprenoid synthase domain-containing protein (1-264AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
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
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：

Cytidylyltransferase required for protein O-linked mannosylation. Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate. CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively. Not Involved in dolichol production.
基因功能參考文獻：
1. ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. PMID: 27194101
2. data suggest that the genetic heterogeneity of Limb Girdle Muscular Dystrophy with and without alpha-DG defects is greater than previously realized. PMID: 26404900
3. ISPD gene homozygous deletion as a prenatal manifestation of Walker-Warburg syndrome has been found in 3 female fetuses of one family. PMID: 26087224
4. Reduced levels of GYLTL1B and ISPD mRNA associated with increased patient mortality and are the likely cause of alphaDG hypoglycosylation in ccRCC. PMID: 26220087
5. study describes a new homozygous missense mutation c.367G>A (p.Gly123Arg) in the ISPD gene in a family of Pakistani origin with 2 cousins from consanguineous parents affected with a congenital muscular dystrophy (CMD) /early limb-girdle muscular dystrophy intermediate phenotype and CMD respectively PMID: 25444434
6. study report the involvement of the ISPD gene in milder dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic ISPD variants in nine cases belonging to seven families PMID: 23288328
7. we identified a novel homozygous c.161G>C/p.G54A variant in ISPD in patients with limb-girdle muscular dystrophy PMID: 23390185
8. TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies. PMID: 23217329
9. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. PMID: 22522420
10. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. PMID: 22522421
11. Observational study of gene-disease association. (HuGE Navigator) PMID: 19913121
12. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 20628086
13. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
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相關疾病：

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7); Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7)
亞細胞定位：

Cytoplasm, cytosol.
蛋白家族：

IspD/TarI cytidylyltransferase family, IspD subfamily
組織特異性：

Ubiquitously expressed, with high expression in brain.
數據庫鏈接：

HGNC: 37276

OMIM: 614631

KEGG: hsa:729920

STRING: 9606.ENSP00000385478

UniGene: Hs.636502

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