Recombinant Human 1,4-alpha-glucan-branching enzyme (GBE1)

中文名稱：
貨號：

CSB-YP2978HU
規格：
來源：

Yeast
其他：

中文名稱：
貨號：

CSB-EP2978HU
規格：
來源：

E.coli
其他：

中文名稱：
貨號：

CSB-EP2978HU-B
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：
貨號：

CSB-BP2978HU
規格：
來源：

Baculovirus
其他：

中文名稱：
貨號：

CSB-MP2978HU
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：

GLGB
Uniprot No.：

Q04446
別名：

1,4-alpha-glucan-branching enzyme; EC 2.4.1.18; Brancher enzyme; Glycogen-branching enzyme; GBE1
種屬：

Homo sapiens (Human)
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：

Liquid or 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：

Required for normal glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule.
基因功能參考文獻：
1. Case Report: novel heterozygous variant (c.760A>G; p.Thr254Ala) in exon 6 of the GBE1 gene resulting in glycogen storage disease type IV. PMID: 27107456
2. The crystal structure of GBE1 in complex with oligosaccharides was determined, the structural and molecular bases of Adult Polyglucosan Body Disease-linked missense mutations was investigated. PMID: 26199317
3. The presence of polyglucosan bodies in intramuscular nerve twigs by itself and is not an indication of APBD mutation. PMID: 26670585
4. GBE1 mutation is found in manifesting heterozygous patients with adult polyglucosan body disease PMID: 25665141
5. Case Reports: novel missense/deletion mutations in GBE1 in glycogen storage disease type IV. PMID: 20058079
6. GBE1 mutations can cause an early adult-onset relapsing-remitting form of polyglucosan body disease distinct from adult polyglucosan body disease in several ways, including younger age at onset. PMID: 24248152
7. Compound heterozygous mutations in GBE1 were identified as the cause of lethal multiple pterygium syndrome in a family. PMID: 23218673
8. this is the first epidemiologic study of the mutation frequency of the adult polyglucosan body disease -associated GBE1 mutation c.1076A>C in a large Ashkenazi Jewish cohort. PMID: 22943850
9. APBD with GBE deficiency is a clinically homogenous disorder that should be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy. PMID: 23034915
10. A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain. PMID: 22305237
11. Case Report: report an as yet undefined and different phenotype of glycogen storage disease with diminished branching enzyme activity associated with multisystemic involvement. PMID: 18392749
12. GYS1 regulation by HIF plays a central role in the hypoxic accumulation of glycogen, and hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1) PMID: 20300197
13. Nine novel GBE1 mutations were identified, including nonsense, missense, deletion, insertion, and splice-junction mutations. Implications for protein structure and interactions were modeled. PMID: 15452297
14. Mutations in the GBE1 gene, located on chromosome 3, have been identified in phenotypes of glycogenosis 4. PMID: 17915577
15. brain white matter degeneration in APBD may result from tissue damage involving axons and myelin in GBE missense mutation PMID: 17994551
16. A c.1558delC frame shift mutation in exon 12 and a c.1999C>T mutation in exon 14 of the GBE1 gene were observed in a neonate with glycogen storage disease type IV. PMID: 18289670
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相關疾病：

Glycogen storage disease 4 (GSD4); Polyglucosan body neuropathy, adult form (APBN)
蛋白家族：

Glycosyl hydrolase 13 family, GlgB subfamily
數據庫鏈接：

HGNC: 4180

OMIM: 232500

KEGG: hsa:2632

STRING: 9606.ENSP00000410833

UniGene: Hs.436062