Recombinant Human Potassium voltage-gated channel subfamily C member 1 (KCNC1)

Code CSB-CF012018HU
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Source in vitro E.coli expression system
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Product Details

Target Names
KCNC1
Uniprot No.
Alternative Names
KCNC1; Potassium voltage-gated channel subfamily C member 1; NGK2; Voltage-gated potassium channel subunit Kv3.1; Voltage-gated potassium channel subunit Kv4
Species
Homo sapiens (Human)
Expression Region
1-511
Target Protein Sequence
MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRH PGVFAHILNYYRTGKLHCPADVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALD SFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDSPDGRPGGFWRRWQPRIWALF EDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAE TEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSS KAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFA TMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALC ALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPH HSTQSDTCPLAQEEILEINRAGRKPLRGMSI
Protein Length
Full length protein
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
Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons.
Gene References into Functions
  1. A recurrent de novo mutation in KCNC1 (c.959G>A, p.Arg320His) has been identified recently as one of the important genetic causes of progress myoclonic epilepsy. This recurrent mutation in KCNC1 was identified in the two brothers who showed characteristic features of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). The asymptomatic mother was suspected as being mosaic for this mutation. PMID: 29428275
  2. KNCN1 p.R320H mutation causes MEAK syndrome. PMID: 28380698
  3. A nonsense variant in KCNC1 gene was identified in three family members with intellectual disability without seizures. PMID: 28145425
  4. reviews the phenotype/genotype of progressive myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK)associated with KCNC1 mutations [review] PMID: 27629860
  5. KCNC1 produces a resurgent current during repolarization, ensuring enough repolarizing power to terminate each action potential. The current results from a combination of steep voltage-dependent gating kinetics and ultra-fast voltage-sensor relaxation. PMID: 26673941
  6. A recurrent KCNC1 de novo mutation, c.959G>A (p.Arg320His), is a new major cause for progressive myoclonus epilepsy. It has a dominant-negative loss-of-function effect. PMID: 25401298
  7. Findings show a decrease in Kv3.1b channel protein in schizophrenia neocortex, a deficit that is restored by antipsychotic drugs PMID: 23628987
  8. Describes localization in mouse brain of two isoforms - the longer is called b and the shorter is called a. PMID: 12091563
  9. Describes two rat isoforms of Kv3.1, alpha is the longer one and beta is the shorter one PMID: 1432046
  10. KChIP4a suppresses A-type Kv4 current via ER retention and enhancement of Kv4 closed-state inactivation. PMID: 23576435
  11. Although all KV3 subunit transcripts are significantly expressed at embryonic age in whole mouse brain extracts, only KV3.1, KV3.2 and KV3.4 subunit transgenic proteins are present. PMID: 21912965
  12. demonstrated that glycosylation was necessary for both DPP10 trafficking to the cell surface and functional interaction with Kv4 channels PMID: 22387313
  13. Kv3.1 channels are transported into axons by binding to kinesin I. PMID: 21106837

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Involvement in disease
Epilepsy, progressive myoclonic 7 (EPM7)
Subcellular Location
Cell membrane; Multi-pass membrane protein. Cell projection, axon. Cell junction, synapse, presynaptic cell membrane.
Protein Families
Potassium channel family, C (Shaw) (TC 1.A.1.2) subfamily, Kv3.1/KCNC1 sub-subfamily
Database Links

HGNC: 6233

OMIM: 176258

KEGG: hsa:3746

STRING: 9606.ENSP00000265969

UniGene: Hs.552896

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