Recombinant Human 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein (ISPD)

中文名稱：

人ISPD重組蛋白
貨號：

CSB-YP388827HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人ISPD重組蛋白
貨號：

CSB-EP388827HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人ISPD重組蛋白
貨號：

CSB-EP388827HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人ISPD重組蛋白
貨號：

CSB-BP388827HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人ISPD重組蛋白
貨號：

CSB-MP388827HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

ISPD
Uniprot No.：

A4D126
別名：

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

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-451
氨基酸序列

MEAGPPGSAR PAEPGPCLSG QRGADHTASA SLQSVAGTEP GRHPQAVAAV LPAGGCGERM GVPTPKQFCP ILERPLISYT LQALERVCWI KDIVVAVTGE NMEVMKSIIQ KYQHKRISLV EAGVTRHRSI FNGLKALAED QINSKLSKPE VVIIHDAVRP FVEEGVLLKV VTAAKEHGAA GAIRPLVSTV VSPSADGCLD YSLERARHRA SEMPQAFLFD VIYEAYQQCS DYDLEFGTEC LQLALKYCCT KAKLVEGSPD LWKVTYKRDL YAAESIIKER ISQEICVVMD TEEDNKHVGH LLEEVLKSEL NHVKVTSEAL GHAGRHLQQI ILDQCYNFVC VNVTTSDFQE TQKLLSMLEE SSLCILYPVV VVSVHFLDFK LVPPSQKMEN LMQIREFAKE VKERNILLYG LLISYPQDDQ KLQESLRQGA IIIASLIKER NSGLIGQLLI A
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

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?。?/div>
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