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FLASH GENE

Symbol

NOS1AP

contributors: mct/npt/pgu - updated : 20-08-2012

HGNC name	nitric oxide synthase 1 (neuronal) adaptor protein
HGNC id	16859

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in cardiomyocytes leads to altered cellular electrophysiology

Susceptibility

to schizophrenia (SCZD9) to variation of the QT interval (cardiac repolarization) to sudden cardiac death (SCD) to sudden death in patients with coronary artery disease to variation of QT interval

Variant & Polymorphism other	common variant (rs10494366T > G, G-allele frequency 38 p100) was identified and consistently associated with QT-interval variation
	association between genetic variation within NOS1AP and SCD
	rs12084280, and rs10918859 associated with increased risk of sudden death in patients with coronary artery disease
	noncoding polymorphism (rs7539120) that maps within an enhancer of NOS1AP, affects cardiac function by increasing NOS1AP transcript expression, and is a major regulator of the QT interval

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS