产品详情
简单介绍：
Anti-Dyskerin Antibody
详情介绍：
Overview
| 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 |
Target
| 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: |
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| Synonyms: | |
| Information: | Target information shown above is from the UniProt Consortium. |
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