Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The NOS1AP gene encodes a protein, carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein, that binds to the signaling molecule, neuronal nitric oxide synthase, and is therefore involved in intracellular signaling processes. Mutations cause autosomal recessive congenital nephrotic syndrome type 22.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Seki N et al. (1997) Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. 
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| 2. |
Jaffrey SR et al. (1998) CAPON: a protein associated with neuronal nitric oxide synthase that regulates its interactions with PSD95.
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| 3. |
Xu B et al. (2005) Increased expression in dorsolateral prefrontal cortex of CAPON in schizophrenia and bipolar disorder.
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| 4. |
Chang KC et al. (2008) CAPON modulates cardiac repolarization via neuronal nitric oxide synthase signaling in the heart.
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| 5. |
Carrel D et al. (2009) NOS1AP regulates dendrite patterning of hippocampal neurons through a carboxypeptidase E-mediated pathway.
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