PrimePCR™ ddPCR™ Expression Probe Assay: BBS7, Human


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

Info:   HEX; Same primer pair and probe as used in qPCR assay qHsaCIP0031892; Intron-spanning

Fluorophore:   HEX
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5056833
Chromosome Location:   4:122782747-122784424question
Amplicon Length:   111

Gene Information

This gene encodes one of seven proteins that form the BBSome complex containing BBS1 BBS2 BBS4 BBS5 BBS7 BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6 BBS10 and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome a genetic disorder whose symptoms include obesity retinal degeneration polydactyly and nephropathy; however mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq Feb 2011]

Gene Symbol:   BBS7
Gene Name:   Bardet-Biedl syndrome 7
Aliases:   BBS2L1, FLJ10715
RefSeq:   NC_000004.11 NT_016354.19 NG_009111.1
Ensembl:   ENSG00000138686
Entrez:   55212
UniGene:   Hs.591694
Chromosome Mapping:   4q27

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