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Dyskerin Antibody
Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application 
| WB |
|---|---|
| Primary Accession | O60832 |
| Reactivity | Human |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 58 KDa |
| Antigen Region | 181-230 aa |
| Gene ID | 1736 |
|---|---|
| Dilution | WB~~ 1:500-1:1000 |
| Format | Rabbit IgG in phosphate buffered saline , pH 7.4, 150mM NaCl, 0.09% (W/V) sodium azide and 50% glycerol |
| Storage | Store at -20 °C.Stable for 12 months from date of receipt |
| Name | DKC1 (HGNC:2890) |
|---|---|
| Synonyms | NOLA4 |
| Function | [Isoform 1]: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674, PubMed:32554502). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534). |
| Cellular Location | [Isoform 1]: Nucleus, nucleolus. Nucleus, Cajal body {ECO:0000250|UniProtKB:P40615} |
| Tissue Location | Ubiquitously expressed. |
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Provided below are standard protocols that you may find useful for product applications.
Background
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.
References
Heiss N.S.,et al.Nat. Genet. 19:32-38(1998).
Knight S.W.,et al.Am. J. Hum. Genet. 65:50-58(1999).
Hassock S.,et al.Genomics 55:21-27(1999).
Jiang W.,et al.Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases.
Angrisani A.,et al.Biochim. Biophys. Acta 1810:1361-1368(2011).
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