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  4. Recombinant Human Immunoglobulin-like domain-containing receptor 1 (ILDR1), partial

Recombinant Human Immunoglobulin-like domain-containing receptor 1 (ILDR1), partial

  • 货号：
    CSB-YP768201HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP768201HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP768201HU-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-BP768201HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP768201HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    ILDR1
  • Uniprot No.：
  • 别名：
    ILDR1; Immunoglobulin-like domain-containing receptor 1
  • 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：
    Putative membrane receptor.
  • 基因功能参考文献：
    1. The study shows that the novel p.G141R mutation in ILDR1 is the likely genetic cause for the hearing impairment in two unrelated Chinese Han DFNB42 families. PMID: 29849566
    2. this is the first ILDR1 and MYO6 mutations recognized in the southwest Iran. Our data expands the spectrum of mutations in ILDR1 and MYO6 genes. PMID: 29224747
    3. The present study reports a first ILDR1 gene mutation in a consanguineous family with hearing loss in the UAE, and confirms that the whole-exome sequencing approach is a robust tool for the diagnosis of monogenic diseases with high levels of allelic and locus heterogeneity. PMID: 28945813
    4. We discovered two genome-wide significant SNPs. The first was novel and near ISG20. The second was in TRIOBP, a gene previously associated with prelingual nonsyndromic hearing loss. Motivated by our TRIOBP results, we also looked at exons in known hearing loss genes, and identified two additional SNPs, rs2877561 in ILDR1 and rs9493672 in EYA4 (at a significance threshold adjusted for number of SNPs in those regions). PMID: 27764096
    5. consanguineous deaf families with novelmutations in the ILDR1 gene, were identified. PMID: 26440088
    6. Whole-exome sequencing of a Korean multiplex family segregating partial deafness identified a novel homozygous ILDR1 variant (p.P69H) within the Ig-like domain. PMID: 25668204
    7. Data indicate a mutation in immunoglobulin-like domain containing receptor 1 (ILDR1) as a causative gene for autosomal-recessive non-syndromic hearing loss (arNSHL) in a consanguineous Saudi family with three affected children. PMID: 24768815
    8. The findings show the heterogeneity of the molecular organization of tTJs in terms of the content of LSR, ILDR1 or ILDR2, and suggest that ILDR1-mediated recruitment of tricellulin to TCs is required for hearing. PMID: 23239027
    9. The analysis of gene expression was extended to Refractory Anemia (RA) and Refractory Anemia with excess blasts (RAEB) cases revealing ILDR1 overexpression in 36% of RAEB subgroup. PMID: 22365942
    10. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. PMID: 21255762
    11. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614

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  • 相关疾病：
    Deafness, autosomal recessive, 42 (DFNB42)
  • 亚细胞定位：
    Cell membrane; Single-pass type I membrane protein.; [Isoform 5]: Cytoplasm, cytosol.
  • 蛋白家族：
    Immunoglobulin superfamily, LISCH7 family
  • 组织特异性：
    Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver.
  • 数据库链接：

    HGNC: 28741

    OMIM: 609646

    KEGG: hsa:286676

    STRING: 9606.ENSP00000345667

    UniGene: Hs.98484