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Product Name DFNA5 Chinese Name 耳聋相关常染色体显性遗传5抗体 Alias 2310037D07Rik; 4932441K13Rik; Deafness, autosomal dominant 5; Deafness, autosomal dominant 5 protein; DFNA5 gene; DFNA5_HUMAN; Dfna5h; EG14210; Fin15; ICERE 1; ICERE-1; Inversely correlated with estrogen receptor expression 1; Non-syndromic hearing impairment protein 5; Nonsyndromic hearing impairment protein; GSDME. literatures Specific References (2) | SL14286R has been referenced in 2 publications.[IF=14.957] Zhanwei Zhou. et al. Pore forming–mediated intracellular protein delivery for enhanced cancer immunotherapy. SCI ADV. 2022 Nov; WB ; Mouse.[IF=7.129] Yixin Zhang. et al. Proteomic analysis of ITPR2 as a new therapeutic target for curcumin protection against AFB1-induced pyroptosis. ECOTOX ENVIRON SAFE. 2023 Jul;260:115073 WB ; Mouse.Research Area immunology Neurobiology Immunogen Species Rabbit Clonality Polyclonal React Species Mouse, Rat, (predicted: Human, Dog, Cow, Sheep, ) Applications WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 54kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human DFNA5: 21-120/496 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 1M TBS(pH7.4) with 1% BSA, 3% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Tissue Specificity:
Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.
DISEASE:
Defects in DFNA5 are the cause of deafness autosomal dominant type 5 (DFNA5) [MIM:600994]. DFNA5 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Similarity:
Belongs to the gasdermin family.
SWISS:
O60443
Gene ID:
1687
Database links:Entrez Gene: 1687 Human
Entrez Gene: 54722 Mouse
Omim: 608798 Human
SwissProt: O60443 Human
SwissProt: Q9Z2D3 Mouse
Unigene: 520708 Human
Unigene: 248361 Mouse
Unigene: 96433 Rat
Product Picture Protein: intestinal(mouse) lysate at 40ug;
Primary: rabbit Anti-DFNA5 (SL14286R) at 1:300;
Secondary: HRP conjugated Goat-Anti-rabbit IgG(SL0295G-HRP) at 1: 5000;
Predicted band size: 54 kD
Observed band size: 54 kDSample:
Small intestine (Mouse) Lysate at 40 ug
Primary: Anti- DFNA5 (SL14286R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 54 kD
Observed band size: 54 kD
Paraformaldehyde-fixed, paraffin embedded (rat spleen tissue); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (DFNA5) Polyclonal Antibody, Unconjugated (SL14286R) at 1:400 overnight at 4°C, followed by a conjugated secondary (sp-0023) for 20 minutes and DAB staining.
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