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  4. Recombinant Human Voltage-dependent L-type calcium channel subunit alpha-1F (CACNA1F), partial

Recombinant Human Voltage-dependent L-type calcium channel subunit alpha-1F (CACNA1F), partial

  • 中文名称：
    Recombinant Human Voltage-dependent L-type calcium channel subunit alpha-1F(CACNA1F) ,partial
  • 货号：
    CSB-YP004402HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human Voltage-dependent L-type calcium channel subunit alpha-1F(CACNA1F) ,partial
  • 货号：
    CSB-EP004402HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    Recombinant Human Voltage-dependent L-type calcium channel subunit alpha-1F(CACNA1F) ,partial
  • 货号：
    CSB-EP004402HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 中文名称：
    Recombinant Human Voltage-dependent L-type calcium channel subunit alpha-1F(CACNA1F) ,partial
  • 货号：
    CSB-BP004402HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human Voltage-dependent L-type calcium channel subunit alpha-1F(CACNA1F) ,partial
  • 货号：
    CSB-MP004402HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CACNA1F
  • Uniprot No.：
    O60840
  • 别名：
    CACNA1F; CACNAF1Voltage-dependent L-type calcium channel subunit alpha-1F; Voltage-gated calcium channel subunit alpha Cav1.4
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Activates at more n...显示更多
  • 基因功能参考文献：
    1. CaV1.4 channels are indeed modulated by PKA phosphorylation within the inhibitor of Ca(2+)-dependent inactivation (ICDI) motif. PMID: 27456671
    2. These two cases demonstrate the clinical overlap between Leber congenital amaurosis and type 2 congenital stationary night blindness in infants and young children. Genetic testing is an essential tool in these cases and provides a more accurate diagnosis and prognosis for patients with inherited retinal degenerative disorders. PMID: 29062221
    3. AED, iCSNB, and X-linked cone-rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F. PMID: 28002560
    4. exon 47 encodes structural determinants that regulate CDI and voltage-dependent activation of Cav1.4, and is necessary for modulation of channel activation by CaBP4. PMID: 27226626
    5. a single nucleotide change c.1555C>T in exon 13 of the CACNA1F gene, leading to the substitution of arginine by tryptophan (p.R519W) in a Chinese individual affected by retinitis pigmentosa, is identified. PMID: 26436388
    6. novel heterozygous missense mutation (c.1555C>T, p.R519W) in CACNA1F gene, which is probably associated with XLRP. PMID: 26075273
    7. analysis of Cav1.4 complexes alpha11.4, beta2, and alpha2delta4 in HEK293T cells and in mouse retina PMID: 25468907
    8. Data on Cav1.4 deficient mice and human female carriers of mutations in CACNA1F are consistent with a phenotype of mosaic congenital stationary night blindness type 2A. PMID: 24163243
    9. Mutation in Cav1.4 gene is associated with congenital stationary night blindness type 2. PMID: 24796500
    10. Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations. PMID: 24124559
    11. In 55 male patients with Congenital Stationary Night Blindness 2, we identified 26 pathogenic sequence changes in the CACNA1F gene. Seventeen of these were novel, 14 of these mutations were nonsense or frameshift mutations, and 3 were missense mutations. PMID: 23714322
    12. Mutations in Ca(v)1.4 alpha1 are associated with X-linked retinal disorders. PMID: 23219801
    13. This is the first case report describing outer retinal structural anomaly consistent with abnormal bipolar cell synapses in CACNA1F-related disease. PMID: 22744390
    14. Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). PMID: 22936811
    15. The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB). PMID: 22735794
    16. A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a Canadian family. PMID: 22194652
    17. Congenital stationary night blindness (CSNB2) patients had significantly thinner retinas than myopic controls; and demonstrated qualitatively normal SD OCT and FAF images, and therefore can be differentiated from retinitis pigmentosa patients. PMID: 21920492
    18. comprehensive mutation analyses in the 48 CACNA1F exons in 36 families, most of them from Germany PMID: 12111638
    19. Novel nonsense mutation detected in exon 7 occurs after the predicted fifth transmembrane domain, deleting part of domain I and all of domains II, III,IV, the EF-hand motif and cytoplasmic C-terminus. PMID: 12552565
    20. A novel mutation in the CACNA1F gene adds further support to the contention that CSNB2 represents a genetically distinct retinal disorder of a calcium channel. PMID: 12719097
    21. The biophysical and pharmacological properties of human retinal Cav1.4alpha1 using the whole-cell patch-clamp technique after heterologous expression in tsA-201 cells were compared with other L-type alpha1 subunits PMID: 12853422
    22. These findings indicate that a mutation of the CACNA1F gene may be associated with retinal and optic disc atrophy with a progressive decline of visual function. PMID: 12860808
    23. L-type Ca2+ channel plays a significant role in the Ca2+ influx pathways mediating T lymphocyte activation and proliferation PMID: 12954628
    24. Introduction of base pair changes associated with four incomplete X-linked congenital night blindness mutations showed that only the G369D alteration affected channel activation properties. Ca(v)1.4 was found widely expressed outside the retina PMID: 14973233
    25. Our data provide unequivocal evidence that congenital stationary night blindness type 2 missense mutations can induce severe changes in Ca(v)1.4 function. PMID: 15634789
    26. In a pool of eight diagnosed XLCSNB (X-linked congenital stationary night blindness) patients, five showed a sequence variation in the CACNA1F and two in the NYX gene. PMID: 15761389
    27. Molecular analyses, reported separately, identified a novel I745T CACNA1F mutation that was associated in vitro with major alterations in gating and kinetics of the Ca(v)1.4 channel. PMID: 15807819
    28. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. PMID: 15897456
    29. Cav1.4 encodes a calcium channel with low open probability and unitary conductance PMID: 16085774
    30. The clinical phenotype of R508Q and L1364H night blindness mutations is unlikely to be explained by changes in channel gating. Instead, these mutations affect the protein expression of Ca(v)1.4 Ca(2+) channels. PMID: 16476079
    31. X linked cone-rod dystrophy (CORDX3), is caused by a mutation in CACNA1F. PMID: 16505158
    32. The present study clearly indicates that AIED (Aland Island eye disease) is also caused by a novel CACNA1F gene mutation. PMID: 17525176
    33. Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution PMID: 17651254
    34. These findings suggest that the pathology of CSNB-2 in patients with these missense mutations in the Ca(v)1.4 calcium channel is the result in either a gain of function (F742C) or a loss of function (G1007R, R1049W). PMID: 17949918
    35. Temperature dependence of Cav1.4 calcium channel gating. PMID: 18206315

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  • 相关疾病：
    Night blindness, congenital stationary, 2A (CSNB2A); Cone-rod dystrophy, X-linked 3 (CORDX3); Aaland island eye disease (AIED)
  • 亚细胞定位：
    Membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Calcium channel alpha-1 subunit (TC 1.A.1.11) family, CACNA1F subfamily
  • 组织特异性：
    Expression in skeletal muscle and retina. Isoform 4 is expressed in retina.
  • 数据库链接：

    HGNC: 1393

    OMIM: 300071

    KEGG: hsa:778

    STRING: 9606.ENSP00000365441

    UniGene: Hs.632799

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