Primary Identifier | MGI:1917979 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 70729 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables nitric-oxide synthase binding activity. Predicted to be involved in postsynaptic actin cytoskeleton organization; regulation of heart rate by chemical signal; and regulation of ventricular cardiac muscle cell membrane repolarization. Located in Z disc; mitochondrion; and sarcoplasmic reticulum membrane. Colocalizes with T-tubule and caveola. Is expressed in several structures, including brain; gallbladder; genitourinary system; spinal cord; and trachea. Human ortholog(s) of this gene implicated in nephrotic syndrome type 22. Orthologous to human NOS1AP (nitric oxide synthase 1 adaptor protein). PHENOTYPE: Mice homozygous for a knock-out allele exhibit oxidative stress induced ventricular arrhythmia and increased induced mortality associated with impairment cardiac function. [provided by MGI curators] |