PrimePCR™ Probe Assay: AC011357.1, Human

RT

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

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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0024400
Assay Design:   Exonic
Chromosome Location:   5:145969171-145969311question
Amplicon Length:   111
Splice Variants Targeted:   ENST00000394413 ENST00000508545 ENST00000394414 ENST00000394411 ENST00000336640 ENST00000504198 ENST00000356826 ENST00000453001 ENST00000394410

Gene Information

The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme which is composed of a catalytic subunit and a constant regulatory subunit that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12) a disease caused by degeneration of the cerebellum sometimes involving the brainstem and spinal cord and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants which encode different isoforms have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 66-78 copies in cases of SCA12. [provided by RefSeq Jul 2008]

Gene Symbol:   AC011357.1
Gene Name:   Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform
Aliases:   B55BETA, FLJ95686, MGC24888, PP2AB55BETA, PP2ABBETA, PP2APR55B, PP2APR55BETA, PR2AB55BETA, PR2ABBETA, PR2APR55BETA, PR52B, PR55-BETA, PR55BETA, SCA12
RefSeq:   NC_000005.9 NT_029289.11 NG_011570.1
Ensembl:   ENSG00000156475
Entrez:   5521
Chromosome Mapping:   5q32

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