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  4. Recombinant Human Nyctalopin (NYX)

Recombinant Human Nyctalopin (NYX)

  • 货号：
    CSB-YP016237HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP016237HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP016237HU-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-BP016237HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP016237HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    NYX
  • Uniprot No.：
  • 别名：
    CLRP; CSNB1; CSNB4; leucine-rich repeat protein; Nyctalopin; NYX; NYX_HUMAN
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    24-481
  • 氨基酸序列
    VGACARA CPAACACSTV ERGCSVRCDR AGLLRVPAEL PCEAVSIDLD RNGLRFLGER AFGTLPSLRR LSLRHNNLSF ITPGAFKGLP RLAELRLAHN GDLRYLHART FAALSRLRRL DLAACRLFSV PERLLAELPA LRELAAFDNL FRRVPGALRG LANLTHAHLE RGRIEAVASS SLQGLRRLRS LSLQANRVRA VHAGAFGDCG VLEHLLLNDN LLAELPADAF RGLRRLRTLN LGGNALDRVA RAWFADLAEL ELLYLDRNSI AFVEEGAFQN LSGLLALHLN GNRLTVLAWV AFQPGFFLGR LFLFRNPWCC DCRLEWLRDW MEGSGRVTDV PCASPGSVAG LDLSQVTFGR SSDGLCVDPE ELNLTTSSPG PSPEPAATTV SRFSSLLSKL LAPRVPVEEA ANTTGGLANA SLSDSLSSRG VGGAGRQPWF LLASCLLPSV AQHVVFGLQM D
  • 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

  • 基因功能参考文献：
    1. Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness were described. PMID: 26234941
    2. Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. PMID: 25802485
    3. Loss of ERG amplitude and apparent ON-pathway dysfunction at high temporal frequencies distinguish this patient with a Trp237Ter NYX mutation from those with other previously reported NYX mutations. PMID: 23289809
    4. A missense mutation (c.529_530GC>AT or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. PMID: 23406521
    5. A mutation was identified in NYX in 20 male patients with Congenital Stationary Night Blindness 1. PMID: 23714322
    6. 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
    7. A proteomic search for proteins associated with nyctalopin in the retina identified TRPM1 as the binding partner and nyctalopin additionally interacts with mGluR6 receptor. PMID: 21832182
    8. Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. PMID: 12397430
    9. Seven in-frame deletion, splicing, missense, nonsense, and frameshift mutations were identified segregating with X-linked congenital stationary night blindness in the NYX gene. PMID: 12552565
    10. Human and mouse nyctalopin are membrane-bound extracellular proteins and are functionally conserved. PMID: 14507859
    11. The results implicated a specific on-pathway signaling deficiency in CSNB1-NYX males with no evidence of off-pathway involvement. Likewise, rapid-on/off ramping stimuli also indicated that the functional deficit was localized to the on pathway. PMID: 15331616
    12. 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
    13. Results support a role for nyctalopin in synaptic transmission and/or synapse formation at ribbon synapses in the retina. PMID: 16553780
    14. X-linked congenital night blindness mutations are reported in Chinese males in two families. PMID: 16670814
    15. Mutations in NYX may cause high myopia without congenital stationary night blindness. PMID: 17392683
    16. The c.855delG deletion in NYX seems to be a common mutation associated with CSNB in the Flemish population from Belgium. PMID: 18617546
    17. The nob (no b-wave) mouse model of CSNB1 (complete form of human X-linked congenital stationary night blindness) involves an 85-bp deletion in the nyx gene. PMID: 12506099
    18. Novel mutations of NYX were identified in two Chinese families with CSNB1 and myopia. PMID: 16670814

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  • 相关疾病：
    Night blindness, congenital stationary, 1A (CSNB1A)
  • 亚细胞定位：
    Secreted, extracellular space, extracellular matrix.
  • 蛋白家族：
    Small leucine-rich proteoglycan (SLRP) family, SLRP class IV subfamily
  • 组织特异性：
    Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer.
  • 数据库链接：

    HGNC: 8082

    OMIM: 300278

    KEGG: hsa:60506

    STRING: 9606.ENSP00000340328

    UniGene: Hs.302019