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  4. Recombinant Human Calcium-binding protein 4 (CABP4)

Recombinant Human Calcium-binding protein 4 (CABP4)

  • 货号：
    CSB-YP004390HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP004390HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP004390HU-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：
  • 货号：
    CSB-BP004390HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP004390HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CABP4
  • Uniprot No.：
  • 别名：
    CABP4; Calcium-binding protein 4; CaBP4
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-275
  • 氨基酸序列
    MTTEQARGQQ GPNLAIGRQK PPAGVVTPKS DAEEPPLTRK RSKKERGLRG SRKRTGSSGE QTGPEAPGSS NNPPSTGEGP AGAPPASPGP ASSRQSHRHR PDSLHDAAQR TYGPLLNRVF GKDRELGPEE LDELQAAFEE FDTDRDGYIS HRELGDCMRT LGYMPTEMEL LEVSQHIKMR MGGRVDFEEF VELIGPKLRE ETAHMLGVRE LRIAFREFDR DRDGRITVAE LREAVPALLG EPLAGPELDE MLREVDLNGD GTVDFDEFVM MLSRH
  • 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：
    Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages.
  • 基因功能参考文献：
    1. CABP4-related retinal disease is a cone-rod system disorder with possible foveal abnormalities. PMID: 29525873
    2. Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up. PMID: 28635425
    3. In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene. PMID: 27428514
    4. Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. PMID: 28002560
    5. we found a homozygous compound mutation in the CABP4 gene in 3 patients with congenital stationary night blindess 2. PMID: 23714322
    6. 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
    7. This report significantly expands on the phenotype associated with calcium binding protein 4 mutations. PMID: 20157620
    8. it is reported for the first time that mutations in CABP4 lead to autosomal recessive congenital stationary night blindness PMID: 16960802
    9. A novel homozygous nonsense mutation in CABP4 in two siblings resulted in a phenotype with severely reduced cone function and only negligibly reduced rod function on electroretinography and psychophysical testing. PMID: 19074807

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  • 相关疾病：
    Cone-rod synaptic disorder, congenital non-progressive (CRSD)
  • 亚细胞定位：
    Cytoplasm. Cell junction, synapse, presynapse.
  • 组织特异性：
    Expressed in retina and in the inner hair cells (IHC) of the cochlea.
  • 数据库链接：

    HGNC: 1386

    OMIM: 608965

    KEGG: hsa:57010

    STRING: 9606.ENSP00000324960

    UniGene: Hs.143036