DKC1 anticorps (AA 171-220)
Aperçu rapide pour DKC1 anticorps (AA 171-220) (ABIN5540295)
Antigène
Voir toutes DKC1 AnticorpsReactivité
Hôte
Clonalité
Conjugué
Application
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Épitope
- AA 171-220
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Specificité
- The antibody detects endogenous levels of Dyskerin protein. (region surrounding Lys203)
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Purification
- Affinity Chromatography using epitope-specific immunogen
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Immunogène
- Synthetic peptide, corresponding to amino acids 171-220 of Human Dyskerin.
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Indications d'application
- Western blot: 1/500-1/1000. Immunofluorescence : 1/50-1/200. Immunohistochemistry on Paraffin Sections: 1/50-1/200.
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Restrictions
- For Research Use only
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Format
- Liquid
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Buffer
- 95 % by SDS-PAGE) Aff - Purified
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Agent conservateur
- Sodium azide
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Précaution d'utilisation
- This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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Stock
- 4 °C,-20 °C
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Stockage commentaire
- Store undiluted at 2-8°C for one month or (in aliquots) at -20°C for longer. Avoid repeated freezing and thawing. Shelf life: one year from despatch.
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Date de péremption
- 12 months
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- DKC1 (Dyskeratosis Congenita 1, Dyskerin (DKC1))
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Autre désignation
- dkc1,nola4
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Sujet
- Dyskerin (NAP57) associates with the chaperone protein Nopp140 and forms a small ribonucleoprotein particle with GAR1 (NOLA1), NHP2 (NOLA2) and Nop10 for the isomerization of uridine to pseudouridine. GAR1, NHP2 and Dyskerin localize to the dense fibrillar component of the nucleolus and in nuclear Cajal bodies. The Dyskerin gene maps to chromosome Xq28. Missense mutations in the Dyskerin gene interfere with normal nuclear localization of Dyskerin and cause Dyskeratosis congenita (DKC). DKC is a rare, X-linked bone marrow disorder characterized by cutaneous hyperpigmentation, dystrophy of the nails, atrophy of the testicles and leukoplakia of the oral mucosa. The GAR1 gene maps to chromosome 4q25 and encodes a 28 kDa protein. The NHP2 gene maps to chromosome 5q35.3 and encodes a 155 amino acid protein.
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UniProt
- O60832
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Pathways
- Telomere Maintenance
Antigène
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