This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| DKC1-20-RE | 20 (40 μL) | 200 μL |  |
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| DKC1-20-OR | 20 (40 μL) | 200 μL |  |
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| DKC1-20-GO | 20 (40 μL) | 200 μL |  |
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| DKC1-20-GR | 20 (40 μL) | 200 μL |  |
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| DKC1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Symbol : DKC1
Gene Name : Dyskerin pseudouridine synthase 1
Chromosome : CHR X: 154,762,741-154,777,688
Locus : Xq28
Alt. Genes : TRIM10
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