PrimePCR™ ddPCR™ Expression Probe Assay: BCKDHA, Human

PrimePCR

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

Info:   FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0033847; Exonic

 
Fluorophore:   FAM
List Price:    $201.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5029262
Chromosome Location:   19:41925103-41925194question
Amplicon Length:   62

Gene Information

The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine isoleucine and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1) a dihydrolipoyl transacylase (E2) and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq Sep 2009]

Gene Symbol:   BCKDHA
Gene Name:   branched chain keto acid dehydrogenase E1, alpha polypeptide
Aliases:   BCKDE1A, FLJ45695, MSU, MSUD1, OVD1A
RefSeq:   NC_000019.9 NG_013004.1 NT_011109.16
Ensembl:   ENSG00000248098
Entrez:   593
UniGene:   Hs.433307
Chromosome Mapping:   19q13.1-q13.2

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