GBE1 Antibody

中文名稱：

GBE1兔多克隆抗體
貨號：

CSB-PA754361LA01HU
規格：

￥440
圖片：
IHC image of CSB-PA754361LA01HU diluted at 1:200 and staining in paraffin-embedded human kidney tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a Goat anti-rabbit IgG labeled by HRP and visualized using 0.05% DAB.
其他：

產品詳情
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靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) GBE1 Polyclonal antibody
Uniprot No.：

Q04446
基因名：

GBE1
別名：

1,4-alpha-glucan-branching enzyme (EC 2.4.1.18) (Brancher enzyme) (Glycogen-branching enzyme), GBE1
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human 1,4-alpha-glucan-branching enzyme protein (1-300aa)
免疫原種屬：

Homo sapiens (Human)

標記方式：

Non-conjugated

本頁面中的產品，GBE1 Antibody (CSB-PA754361LA01HU)，的標記方式是Non-conjugated。對于GBE1 Antibody，我們還提供其他標記。見下表：

標記方式	貨號	產品名稱	應用
HRP	CSB-PA754361LB01HU	GBE1 Antibody, HRP conjugated	ELISA
FITC	CSB-PA754361LC01HU	GBE1 Antibody, FITC conjugated
Biotin	CSB-PA754361LD01HU	GBE1 Antibody, Biotin conjugated	ELISA

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, IHC

推薦稀釋比：

Application	Recommended Dilution
IHC	1:100-1:500

Protocols：

ELISA Protocol
Immunohistochemistry (IHC) 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：

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

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