DKC1 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IF, IHC, WB
Recommend Dilution	Western blot: 1/500-1/1000. Immunofluorescence: 1/50-1/200. Immunohistochemistry on Paraffin Sections: 1/50-1/200.
Reactivity	Human, Mouse, Rat
Host	Rabbit
Clonality	Polyclonal
Immunogen	Synthetic peptide, corresponding to amino acids 171-220 of Human Dyskerin.
Specificity	The antibody detects endogenous levels of Dyskerin protein. (region surrounding Lys203)
Formulation	Phosphate buffered saline (PBS), pH 7.2. State: Aff - Purified State: Liquid purified Ig fraction (> 95% by SDS-PAGE) Preservative: 0.05% Sodium Azide
Concentration	1.0 mg/ml
Purification	Affinity Chromatography using epitope-specific immunogen
Conjugation	Unconjugated
Storage Condition	Store undiluted at 2-8°C for one month or (in aliquots) at -20°C for longer. Avoid repeated freezing and thawing.
Predicted Protein Size	~ 57 kDa
Gene Name	dyskerin pseudouridine synthase 1
Database Link	Entrez Gene 1736 Human UniProt ID O60832
Background	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.
Synonyms	Dyskerin, Nucleolar protein NAP57, CBF5 homolog
Reference Data

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