Mouse anti-Human/Mouse/Rat NOS3 Monoclonal Antibody

Function

Lacks eNOS activity, dominant-negative form that may down-regulate eNOS activity by forming heterodimers with isoform 1

Subcellular Location

Cell membrane; Membrane, caveola; Cytoplasm, cytoskeleton; Golgi apparatus

Disease Association

Moyamoya disease 8 (MYMY8) : A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY8 inheritance is autosomal recessive. [The disease may be caused by variants affecting the gene represented in this entry]

Tissue Specificity

Platelets, placenta, liver and kidney

Subunit

Homodimer. Interacts with NOSIP and NOSTRIN (PubMed:11149895, PubMed:12446846). Interacts with HSP90AB1 (By similarity) (PubMed:11149895, PubMed:12446846, PubMed:23585225). Forms a complex with ASL, ASS1 and SLC7A1; the complex regulates cell-autonomous L-arginine synthesis and citrulline recycling while channeling extracellular L-arginine to nitric oxide synthesis pathway (By similarity)

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• Janssens S.P. et al. PubMed: CI-295L8R5H8857K — J. Biol. Chem. (1992)
• Marsden P.A. et al. Molecular cloning and characterization of human endothelial nitric oxide synthase. — FEBS Lett. (1992)
• Marsden P.A. et al. Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. — J. Biol. Chem. (1993)
• Nadaud S.A. et al. Gene structure, polymorphism and mapping of the human endothelial nitric oxide synthase gene. — Biochem. Biophys. Res. Commun. (1994)
• Miyahara K. et al. Cloning and structural characterization of the human endothelial nitric-oxide-synthase gene. — Eur. J. Biochem. (1994)
• Lorenz M. et al. Alternative splicing in intron 13 of the human eNOS gene: a potential mechanism for regulating eNOS activity. — FASEB J. (2007)
• Liao J.K. et al. PubMed: CI-DLT8EHB3J7J3R (DEC-)