PrimePCR™ Probe Assay: BCKDHB, 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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PrimePCR™ PreAmp for Probe Assay: BCKDHB, Human
Reaction:     400 reactions
Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis.

PrimePCR™ Template for Probe Assay: BCKDHB, Human
Reaction:     200 x 20 µl reactions
Gene-specific synthetic DNA template designed to give a positive real-time PCR result when used with the corresponding probe assay.


Wet Lab Validated

Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0058264
Assay Design:   exonic
Chromosome Location:   6:80878598-80878738question
Amplicon Length:   111
Splice Variants Targeted:   ENST00000369760 ENST00000356489 ENST00000320393 ENST00000545529

Gene Information

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1) lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit and mutations therein have been associated with maple syrup urine disease (MSUD) type 1B a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions but encoding the same isoform. [provided by RefSeq Jul 2008]

Gene Symbol:   BCKDHB
Gene Name:   branched chain keto acid dehydrogenase E1, beta polypeptide
Aliases:   E1B, FLJ17880, dJ279A18.1
RefSeq:   NC_000006.11 NG_009775.1 NT_007299.13
Ensembl:   ENSG00000083123
Entrez:   594
Chromosome Mapping:   6q14.1

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