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  4. Recombinant Human Protein atonal homolog 7 (ATOH7)

Recombinant Human Protein atonal homolog 7 (ATOH7)

  • 中文名稱：
    Recombinant Human Protein atonal homolog 7(ATOH7)
  • 貨號(hào)：
    CSB-YP850773HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human Protein atonal homolog 7(ATOH7)
  • 貨號(hào)：
    CSB-EP850773HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human Protein atonal homolog 7(ATOH7)
  • 貨號(hào)：
    CSB-EP850773HU-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    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：
  • 中文名稱：
    Recombinant Human Protein atonal homolog 7(ATOH7)
  • 貨號(hào)：
    CSB-BP850773HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human Protein atonal homolog 7(ATOH7)
  • 貨號(hào)：
    CSB-MP850773HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    ATOH7
  • Uniprot No.：
  • 別名：
    ATOH7; ATOH7_HUMAN; Atonal homolog 7 (Drosophila); Atonal Homolog 7; bHLHa13; Class A basic helix-loop-helix protein 13; hATH5; Helix-loop-helix protein hATH-5; Math5; Protein atonal homolog 7
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    full length protein
  • 表達(dá)區(qū)域：
    1-152
  • 氨基酸序列
    MKSCKPSGPP AGARVAPPCA GGTECAGTCA GAGRLESAAR RRLAANARER RRMQGLNTAF DRLRRVVPQW GQDKKLSKYE TLQMALSYIM ALTRILAEAE RFGSERDWVG LHCEHFGRDH YLPFPGAKLP GESELYSQRL FGFQPEPFQM AT
  • 蛋白標(biāo)簽：
    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.
  • 產(chǎn)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.
  • 復(fù)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.
  • 儲(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)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.
  • 貨期：
    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.
  • 注意事項(xiàng)：
    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.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Transcription factor that positively regulates the determination of retinal ganglion cell fate and formation of the optic nerve and retino-hypothalamic tract. Required for retinal circadian rhythm photoentrainment.
  • 基因功能參考文獻(xiàn)：
    1. In conclusion, we have identified a homozygous mutation in the ATOH7 gene in a patient with nonsyndromic congenital retinal nonattachment. PMID: 26933893
    2. We evaluated 21 consanguineous NCRNA pedigrees and identified the causal mutations in known retinal genes in 13 out of our 21 families. We found mutations in ATOH7 in three families. PMID: 28192794
    3. We discovered a novel SNP, rs56238729 (P = 1.22 x 10-13), in the ATOH7-PBLD region that is significantly associated with VCDR in Latino individuals. PMID: 28061514
    4. The genotype and allele frequencies of the polymorphism in ATOH7 did not show any statistically significant association with primary open angle glaucomacompared to controls. PMID: 27617586
    5. Familial linkage studies for primary angle-closure glaucoma have been performed and identified ATOH7 causative primary angle-closure glaucoma disease PMID: 26497787
    6. Single nucleotide polymorphism in ATOH7 gene is associated with primary open angle glaucoma. PMID: 25798827
    7. The significant association of three common variants in TMCO1, ATOH7, and CAV1 with primary open angle, primary angle closure, and pseudoexfoliation glaucoma was found in Pakistani cohorts. PMID: 25489222
    8. Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort. PMID: 23802135
    9. This study finds that ATOH7 is associated with optic disc size but not independently with cup/disk ratio. PMID: 24457358
    10. a bHLH mutation in ATOH7 causes recessive persistent hyperplasia of the primary vitreous PMID: 22645276
    11. findings document Mendelian mutations within ATOH7 and imply a role for this molecule in the development of structures at the front as well as the back of the eye; study provides further insights into the function of ATOH7, especially its importance in retinal vascular development and hyaloid regression PMID: 22068589
    12. combination of ATOH7 and RFTN1 SNPs increased risk to POAG, indicating their diversified effects in the complex genetics of glaucoma. PMID: 22222511
    13. Report Math5 expression/function in retinal ganglion cells. PMID: 22019371
    14. ATOH7 is significantly associated with open-angle glaucoma. PMID: 21427129
    15. Polymorphisms of ATOH7, TGFBR3 and CARD10 influence the size of optic disc area. PMID: 21307088
    16. This study demonistrated that Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. PMID: 21441919
    17. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size PMID: 20395239

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  • 相關(guān)疾病：
    Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR)
  • 亞細(xì)胞定位：
    Nucleus.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 13907

    OMIM: 221900

    KEGG: hsa:220202

    STRING: 9606.ENSP00000362777

    UniGene: Hs.175396



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