PrimePCR™ lncRNA® Probe Assay:DKC1, Human

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

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   Same primer pair as used in SYBR assay qhsaLID0213566

List Price:    $254.00
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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   lncRNA Expression
Unique Assay ID:   qhsaLIP0215002
Assay Design:   intron_spanning
Chromosome Location:   chrX:154773149-154774635question
Amplicon Length:   105
Splice Variants Targeted:   ENST00000481062 ENST00000475966 ENST00000426673 ENST00000412124 ENST00000620277 ENST00000369550
LNCipedia Splice Variants Targeted:   lnc-H2AFB1-1:5

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
LNCipedia:   lnc-H2AFB1-1
Entrez:   1736
Chromosome Mapping:   Xq28
Gene Strand:   Not Available

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