PrimePCR™ Probe Assay: INPP5E, 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.

List Price:    $263.00
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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCIP0028011
Assay Design:   Intron-spanning
Chromosome Location:   9:139324789-139325555question
Amplicon Length:   149
Splice Variants Targeted:   ENST00000371712

Gene Information

The protein encoded by this gene is an inositol 145-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(145)P3 which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 345-trisphosphate and phosphatidylinositol 35-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy nephronophthisis liver fibrosis and polydactyly.[provided by RefSeq Feb 2011]

Gene Symbol:   INPP5E
Gene Name:   inositol polyphosphate-5-phosphatase, 72 kDa
Aliases:   CORS1, CPD4, JBTS1, MGC117201, MORMS, PPI5PIV
RefSeq:   NC_000009.11 NG_016126.1 NT_024000.16
Ensembl:   ENSG00000148384
Entrez:   56623
Chromosome Mapping:   9q34.3

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