Recombinant Human UPF0414 transmembrane protein C20orf30 (C20orf30), partial

Code CSB-YP853380HU1
MSDS
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Source Yeast
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Code CSB-EP853380HU1
MSDS
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Source E.coli
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Code CSB-EP853380HU1-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-BP853380HU1
MSDS
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Source Baculovirus
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Code CSB-MP853380HU1
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
TMEM230
Uniprot No.
Alternative Names
TMEM230; C20orf30; HSPC274; UNQ2432/PRO4992; Transmembrane protein 230
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.

Customer Reviews and Q&A

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Target Background

Function
Involved in trafficking and recycling of synaptic vesicles.
Gene References into Functions
  1. Findings suggest that the incidence of pathogenic variations in TMEM230 is very low and, therefore, TMEM230 do not play a major role in familial and sporadic Parkinson's disease patients in southern Spanish population which can have important implication in clinical investigation. PMID: 29771939
  2. These results suggest that TMEM230 mutations are not a frequent cause of PD with AD inheritance in the Italian population. PMID: 28318986
  3. TMEM230 mutations are rare in Chinese patients with familial PD. PMID: 28038866
  4. This study suggest that mutations in TMEM230 are not a common cause of Parkinson's disease. PMID: 28090676
  5. the TMEM230 stop codon mutation is rare in Parkinson's disease and essential tremor patients from China, especially eastern China. PMID: 27869322
  6. Study did not detect any potential functional exonic TMEM230 variants in sporadic multiple system atrophy in a Han Chinese cohort. PMID: 28320143
  7. These results suggest that TMEM230 gene mutations may be rare in Chinese populations, and the variability of TMEM230 gene may not be a main factor for sporadic Parkinson's disease patients in Chinese Han populations. PMID: 28446760
  8. These findings identifying TMEM230 as a component of granulovacuolar degeneration and dystrophic neurites suggest TMEM230 dysregulation as a likely mechanism playing an important role in the pathogenesis of Alzheimer's Disease. PMID: 28527219
  9. The identification of TMEM230 mutations in Parkinson's disease is potentially an important finding. PMID: 28568905
  10. TMEM230 mutation might be a rare cause of Chinese familial and sporadic Parkinson's-disease patients. PMID: 28709721
  11. Mutation in TMEM230 gene is not associated with Parkinson's disease. PMID: 28766910
  12. TMEM230 mutation may not be a common genetic factor for Chinese familial and sporadic PD patients. PMID: 27814995
  13. No variants in the TMEM230 region were found associated with PD, age at onset, or cerebrospinal fluid alpha-synuclein levels PMID: 28457580
  14. Mutations in TMEM230 is associated to Parkinson's disease (PD). PMID: 27818000
  15. TMEM230 mutation is associated with Parkinson's disease. PMID: 27270108
  16. knockdown of another Parkinson's disease (PD) gene, LRRK2, which phosphorylates Rab8a, similarly impairs retromer trafficking, secretory autophagy and Golgi-derived vesicle secretion, thus demonstrating converging roles of two PD genes TMEM230 and LRRK2 on Rab8a function, and suggesting that retromer and secretory dysfunction play an important role in PD pathogenesis. PMID: 28115417

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Involvement in disease
Parkinson disease (PARK)
Subcellular Location
Membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Early endosome. Recycling endosome. Late endosome. Cytoplasmic vesicle, autophagosome.
Protein Families
TMEM134/TMEM230 family
Database Links

HGNC: 15876

OMIM: 168600

KEGG: hsa:29058

STRING: 9606.ENSP00000341364

UniGene: Hs.472024

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