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Product Name Anti-DKC1/Gold Chinese Name 胶体金标记的核仁蛋白NAP57抗体 Alias CBF5; CBF5 homolog; Cbf5p homolog; DKC 1; DKC; Dkc1; DKC1_HUMAN; DKCX; Dyskeratosis congenita 1; Dyskeratosis congenita 1 dyskerin; Dyskerin; H/ACA ribonucleoprotein complex subunit 4; NAP 57; NAP57; NAP-57; NOLA 4; NOLA4; Nopp140 associated protein of 57 kDa; Nopp140-associated protein of 57 kDa; Nucleolar protein family A member 4; Nucleolar protein NAP57; snoRNP protein DKC1; XAP 101; XAP101. Research Area Chromatin and nuclear signals transcriptional regulatory factor Epigenetics Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep, ) Applications IEM=1:20-200 ICA=1:20-200 ChIP=1:20-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Molecular weight 58kDa Form Lyophilized or Liquid Concentration 0.4mg/ml immunogen KLH conjugated synthetic peptide derived from human DKC1/Dyskerin/NAP57 Lsotype IgG Purification affinity purified by Protein A Storage Buffer 0.02M TBS(pH8.2) with 1% BSA, 0.03% Proclin300. Storage Store at 2-8 ºC for 3-6 months. Avoid repeated freeze/thaw cycles. Product Detail 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 (1). GAR1, NHP2 and dyskerin localize to the dense fibrillar component of the nucleolus and in nuclear Cajal bodies (2). The dyskerin gene maps to chromosome Xq28 (3). Missense mutations in the dyskerin gene interfere with normal nuclear localization of dyskerin and cause Dyskeratosis congenita (DKC) (4). 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 (5,6). The NHP2 gene maps to chromosome 5q35.3 and encodes a 155-amino acid protein (2,7).
Function:
Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.
Subcellular Location:
Cytoplasm and Nucleus, nucleolus. Nucleus, Cajal body. Also localized to Cajal bodies.
Tissue Specificity:
Ubiquitously expressed.
DISEASE:
Defects in DKC1 are a cause of dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]. XDKC is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]. HHS is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation.
Similarity:
Belongs to the pseudouridine synthase TruB family.
Contains 1 PUA domain.
Database links:Entrez Gene: 1736 Human
Entrez Gene: 245474 Mouse
Omim: 300126 Human
SwissProt: O60832 Human
SwissProt: Q9ESX5 Mouse
Unigene: 4747 Human
Unigene: 291062 Mouse
Unigene: 4223 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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