Recombinant Human Ectopic P granules protein 5 homolog (EPG5), partial

中文名稱：

人EPG5重組蛋白
貨號：

CSB-YP881024HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人EPG5重組蛋白
貨號：

CSB-EP881024HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人EPG5重組蛋白
貨號：

CSB-EP881024HU-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EPG5重組蛋白
貨號：

CSB-BP881024HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人EPG5重組蛋白
貨號：

CSB-MP881024HU
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：

EPG5
Uniprot No.：

Q9HCE0
別名：

Ectopic P granules autophagy protein 5 homolog (C. elegans); Ectopic P granules protein 5 homolog; Epg5; EPG5_HUMAN; HEEW1; hEPG5; KIAA1632
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
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：

Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Plays a key role in innate and adaptive immune response triggered by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and mediated by the nucleotide-sensing receptor TLR9. It is necessary for the translocation of CpG dinucleotides from early endosomes to late endosomes and lysosomes, where TLR9 is located.
基因功能參考文獻：
1. Our findings expand the phenotypical spectrum of EPG5-related Vici syndrome and suggest that this severe condition may already present in utero PMID: 28748650
2. Our report further reinforces that EPG5-related Vici syndrome is both a neurodevelopmental disorder, which can be diagnosed as early as the second trimester of pregnancy, as well as a neurodegenerative disorder. PMID: 28168853
3. The Vici syndrome protein EPG5 is a Rab7 effector that determines the fusion specificity of autophagosomes with late endosomes/lysosomes. PMID: 27588602
4. Seven SNPs were significantly associated with the risk of Alzheimer disease, and eight SNPs were associated with the age at onset of AD. PMID: 27586004
5. We report two sisters with a nonsense mutation within exon 14 of the EPG5 gene and a phenotype consistent with Vici syndrome PMID: 26854214
6. This article confirms in silico predictions of aberrant splicing in the EPG5 gene due to the mutation NM_020964.2; c.1007A>G p.Gln336Arg PMID: 27343256
7. A mutation affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome. PMID: 25331754
8. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. PMID: 23222957
9. We characterized the KIAA1632 gene by computational methods: detailed investigation of the genomic structure, protein prediction, identification of orthologs in other species and phylogenetic analysis. PMID: 17549423
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相關疾病：

Vici syndrome (VICIS)
亞細胞定位：

Cytoplasm, perinuclear region. Lysosome.
蛋白家族：

EPG5 family
數據庫鏈接：

HGNC: 29331

OMIM: 242840

KEGG: hsa:57724

STRING: 9606.ENSP00000282041

UniGene: Hs.514843