PrimePCR™ Probe Assay: NPHP1, 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:   qHsaCIP0027038
Assay Design:   Intron-spanning
Chromosome Location:   2:110922717-110927430question
Amplicon Length:   136
Splice Variants Targeted:   ENST00000316534 ENST00000445609 ENST00000393272 ENST00000355301 ENST00000417665

Gene Information

This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate and it appears to function in the control of cell division as well as in cell-cell and cell-matrix adhesion signaling likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1 a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1 also referred to as juvenile nephronophthisis with Leber amaurosis which is characterized by kidney and eye disease and with Joubert syndrome type 4 which is characterized by cerebellar ataxia oculomotor apraxia psychomotor delay and neonatal breathing abnormalities sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq Jul 2008]

Gene Symbol:   NPHP1
Gene Name:   nephronophthisis 1 (juvenile)
Aliases:   FLJ97602, JBTS4, NPH1, SLSN1
RefSeq:   NC_000002.11 NG_008287.1 NT_022135.16
Ensembl:   ENSG00000144061
Entrez:   4867
Chromosome Mapping:   2q13

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