PrimePCR™ Probe Assay: HMBS, 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: HMBS, 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: HMBS, 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:   qHsaCIP0041561
Assay Design:   Intron-spanning
Chromosome Location:   11:118960936-118962848question
Amplicon Length:   137
Splice Variants Targeted:   ENST00000328194 ENST00000530044 ENST00000278715 ENST00000537841 ENST00000542729 ENST00000546302 ENST00000442944 ENST00000544387 ENST00000543090 ENST00000539986 ENST00000535253 ENST00000392841 ENST00000372105 ENST00000293805 ENST00000570821 ENST00000571563 ENST00000575888 ENST00000571049 ENST00000574152 ENST00000571030 ENST00000572161 ENST00000574831 ENST00000574281 ENST00000575587

Gene Information

This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq Jul 2008]

Gene Symbol:   HMBS
Gene Name:   hydroxymethylbilane synthase
Aliases:   PBG-D, PBGD, PORC, UPS
RefSeq:   NC_000011.9 NG_008093.1 NT_033899.8
Ensembl:   ENSG00000256269
Entrez:   3145
Chromosome Mapping:   11q23.3

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