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

Code CSB-YP768201HU
MSDS
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Source Yeast
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Code CSB-EP768201HU
MSDS
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Source E.coli
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Code CSB-EP768201HU-B
MSDS
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Source E.coli
Conjugate 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.
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Code CSB-BP768201HU
MSDS
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Source Baculovirus
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Code CSB-MP768201HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
ILDR1
Uniprot No.
Alternative Names
ILDR1; Immunoglobulin-like domain-containing receptor 1
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
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.
Form
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.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
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.
Notes
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.

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Target Background

Function
Putative membrane receptor.
Gene References into Functions
  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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Involvement in disease
Deafness, autosomal recessive, 42 (DFNB42)
Subcellular Location
Cell membrane; Single-pass type I membrane protein.; [Isoform 5]: Cytoplasm, cytosol.
Protein Families
Immunoglobulin superfamily, LISCH7 family
Tissue Specificity
Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver.
Database Links

HGNC: 28741

OMIM: 609646

KEGG: hsa:286676

STRING: 9606.ENSP00000345667

UniGene: Hs.98484

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