Gene:  DKC1, Human

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This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita a disease resulting in reticulate skin pigmentation mucosal leukoplakia nail dystrophy and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq Dec 2008]

PrimePCR™ SYBR® Green Assay: DKC1, Human
dyskeratosis congenita 1, dyskerin

Assay Type: SYBR® Green
Assay Design: exonic
Application: Gene Expression
Unique Assay ID: qHsaCED0044344
Info:   Recommended - best coverage; Same primer pair as used in probe assay qHsaCEP0051606
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PrimePCR™ SYBR® Green Assay: DKC1, Human
dyskeratosis congenita 1, dyskerin

Assay Type: SYBR® Green
Assay Design: Intron-spanning
Application: Gene Expression
Unique Assay ID: qHsaCID0017814
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PrimePCR™ Probe Assay: DKC1, Human
dyskeratosis congenita 1, dyskerin

Assay Type: Probe
Assay Design: exonic
Application: Gene Expression
Unique Assay ID: qHsaCEP0051606
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Number Description Download
6262 PrimePCR Assays: Meeting the MIQE Guidelines by Full Wet-Lab Validation, Rev B Click to download
6263 PrimePCR Pathway Analysis: Pathway Curation and Real-Time PCR Panel Design Strategy, Rev B Click to download
6290 PrimePCR Assays and Panels Brochure, Rev D Click to download
LIT10026370 Instruction Manual, PrimePCR Assays, Panels, and Controls, Rev E Click to download
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