PrimePCR™ ddPCR™ Expression EvaGreen® Assay: DKC1, Human

PrimePCR Primer Assays for Real-Time PCR oligo primer pair tube for SYBR Green gene expression

ddPCR Evagreen assay for gene expression analysis. EvaGreen assays consist of unlabeled PCR primer.

Info:   EG; Same primer pair as used in qPCR assay qHsaCID0017814; Intron-spanning

List Price:    $134.00
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Assay Information

Technology:   ddPCR
Assay Type:   EvaGreen
Application:   Gene Expression
Unique Assay ID:   dHsaEG5189675
Chromosome Location:   X:154001445-154002909question
Amplicon Length:   83

Gene Information

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]

Gene Symbol:   DKC1
Gene Name:   dyskeratosis congenita 1, dyskerin
Aliases:   CBF5, DKC, FLJ97620, NAP57, NOLA4, XAP101
RefSeq:   NC_000023.10 NG_015873.1 NT_167198.1 NG_009780.1
Ensembl:   ENSG00000130826
Entrez:   1736
UniGene:   Hs.4747
Chromosome Mapping:   Xq28

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