Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephrocystin 5

The gene NPHP5 encodes a nephrocystin protein that is involved in ciliary function of renal epithelial cells. Loss of function mutations result in Nephronophthisis type 5.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 05
IQCB1
Senior-Loken syndrome 5
IQCB1

References:

1.

Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

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2.

Stone EM et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

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3.

Luo X et al. (2005) Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers.

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4.

Schäfer T et al. (2008) Genetic and physical interaction between the NPHP5 and NPHP6 gene products.

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5.

Nomura N et al. (1994) Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.

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6.

OMIM.ORG article

Omim 609237 [^]
7.

Orphanet article

Orphanet ID 122670 [^]
8.

NCBI article

NCBI 9657 [^]
9.

Wikipedia article

Wikipedia EN (IQCB1) [^]
Update: April 29, 2019