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Anti-Dyskerin Antibody

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产品名称: Anti-Dyskerin Antibody
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Anti-Dyskerin Antibody


Anti-Dyskerin Antibody  的详细介绍
Name: Anti-Dyskerin Antibody
See all Dyskerin primary antibodies
Description: Rabbit polyclonal antibody to Dyskerin
Specificity: The antibody detects endogenous levels of total Dyskerin protein.
Applications: WB, IF
Reactivity: Human, Mouse, Rat
Immunogen: Synthesized peptide derived from Internal of human Dyskerin.
Host: Rabbit
Clonality: Polyclonal
Conjugate: Unconjugated
Purification: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration: 1.0mg / ml
Formulation: Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Storage: Store at -20˚C
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.
Tissue Specificity: Ubiquitously expressed.
Involvement in Disease: Dyskeratosis congenita, X-linked: 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.

Hoyeraal-Hreidarsson syndrome: A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.
Sequence Similarities: Belongs to the pseudouridine synthase TruB family.
Cellular Location: Nucleus > Nucleolus. Nucleus > Cajal body.

Also localized to Cajal bodies (coiled bodies).
Database Links:
  • Entrez Gene: 1736 Human
  • Entrez Gene: 245474 Mouse
  • Entrez Gene: 170944 Rat
  • Omim: 300126 Human
  • SwissProt: O60832 Human
  • SwissProt: Q9ESX5 Mouse
  • SwissProt: P40615 Rat
  • Unigene: 4747 Human
  • Unigene: 291062 Mouse
  • Unigene: 4223 Rat
    		•
    Synonyms:
  • CBF5 Antibody
  • CBF5 homolog Antibody
  • Cbf5p homolog Antibody
  • DKC Antibody
  • DKC 1 Antibody
  • DKC1 Antibody
  • DKC1_HUMAN Antibody
  • DKCX Antibody
  • Dyskeratosis congenita 1 Antibody
  • Dyskeratosis congenita 1 dyskerin Antibody
  • Dyskerin Antibody
  • H/ACA ribonucleoprotein complex subunit 4 Antibody
  • NAP 57 Antibody
  • NAP57 Antibody
  • NOLA 4 Antibody
  • NOLA4 Antibody
  • Nopp140 associated protein of 57 kDa Antibody
  • Nopp140-associated protein of 57 kDa Antibody
  • Nucleolar protein family A member 4 Antibody
  • Nucleolar protein NAP57 Antibody
  • snoRNP protein DKC1 Antibody
  • XAP 101 Antibody
  • XAP101 Antibody
    		•
    Information: Target information shown above is from the UniProt Consortium.
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