PrimePCR™ Probe Assay: SLC25A19, 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:   qHsaCIP0028031
Assay Design:   Intron-spanning
Chromosome Location:   17:73273519-73274355question
Amplicon Length:   139
Splice Variants Targeted:   ENST00000416858 ENST00000442286 ENST00000320362 ENST00000402418 ENST00000375261

Gene Information

This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly Amish type a metabolic disease that results in severe congenital microcephaly severe 2-ketoglutaric aciduria and death within the first year. Multiple alternatively spliced variants encoding the same protein have been identified for this gene. [provided by RefSeq Jul 2008]

Gene Symbol:   SLC25A19
Gene Name:   solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
Aliases:   DNC, MCPHA, MUP1, TPC
RefSeq:   NC_000017.10 NT_010783.15 NG_008274.1
Ensembl:   ENSG00000125454
Entrez:   60386
Chromosome Mapping:   17q25.3

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