NOS1AP
Function
Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity). In kidney podocytes, plays a role in podosomes and filopodia formation through CDC42 activation (PubMed:33523862).
Involvement in disease
Nephrotic syndrome 22
NPHS22
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS22 is an autosomal recessive, steroid-resistant form characterized by onset of progressive kidney dysfunction in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in kidney glomeruli podocytes.
Cellular localization
- Cell projection
- Filopodium
- Cell projection
- Podosome
Alternative names
CAPON, KIAA0464, NOS1AP, Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein, C-terminal PDZ ligand of neuronal nitric oxide synthase protein, Nitric oxide synthase 1 adaptor protein