Recombinant Human Puratrophin-1 (PLEKHG4), partial

Code CSB-YP682371HU
MSDS
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Source Yeast
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Code CSB-EP682371HU
MSDS
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Source E.coli
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Code CSB-EP682371HU-B
MSDS
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Source E.coli
Conjugate 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.
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Code CSB-BP682371HU
MSDS
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Source Baculovirus
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Code CSB-MP682371HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
PLEKHG4
Uniprot No.
Alternative Names
ARHGEF44; DKFZp434I216; PH domain containing family G member 4; PH domain-containing family G member 4; PKHG4_HUMAN; Pleckstrin homology and RhoGEF domain containing G4; Pleckstrin homology domain containing family G (with RhoGef domain) member 4; Pleckstrin homology domain containing family G member 4; Pleckstrin homology domain-containing family G member 4; PLEKHG 4; PLEKHG4; PRTPHN 1; PRTPHN1; Puratrophin 1; Puratrophin-1; Puratrophin1; Purkinje cell atrophy associated protein 1; Purkinje cell atrophy-associated protein 1; SCA 4; SCA4
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
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.
Form
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.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
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.
Notes
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.

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Target Background

Function
Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.
Gene References into Functions
  1. Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle. PMID: 25025572
  2. This letter suggested cerebellar ataxia due to a pentanucleotide repeat (TAGAA) expansion on the puratrophin-1 (PLEKHG4) gene on chromosome 16q-22.1. PMID: 21357611
  3. (TGGAA)(n) repeats in the insertion mutation of PLEKHG4 are related to the pathogenesis of SCA31 PMID: 20424877
  4. Spinocerebellar ataxia type 4 (SCA4) is mapped to chromosome 16q22.1 in northern germany.Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. PMID: 12796826
  5. the autosomal dominant cerebellar ataxia that we have characterized is allelic with SCA4 and Japanese 16q-linked ADCA type III. PMID: 15455264
  6. puratrophin-1 has a role in intracellular signaling and actin dynamics at the Golgi apparatus PMID: 16001362
  7. Mutations of the puratrophin1 gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. PMID: 16491300
  8. We found the C-to-T substitution in the puratrophin-1 gene in 20 patients with ataxia (16 heterozygotes and four homozygotes) and four asymptomatic carriers in 9 of 24 families with an unknown type of ADCA. PMID: 16780885
  9. among 686 autosomal dominant spinocerebellar ataxia families in our cohort, 57 families were identified to have 65 affected individuals, who carried the C-to-T substitution of the puratrophin-1 gene PMID: 17357132
  10. Disease locus of 16q-autosomal dominant cerebellar ataxia was definitely confined to a 900-kb genomic region between the SNP04 and the -16C>T substitution in the puratrophin-1 gene in 16q22.1. PMID: 17611710
  11. Rac1 activation specifically in membrane ruffles by the guanine-nucleotide-exchange factor FLJ00068 is sufficient for insulin induction of glucose uptake into skeletal-muscle cells. PMID: 18482007
  12. The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China. PMID: 19065522

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Tissue Specificity
Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons (at protein level). Widel
Database Links

HGNC: 24501

OMIM: 609526

KEGG: hsa:25894

STRING: 9606.ENSP00000353646

UniGene: Hs.188781

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