Primary Identifier | MGI:101772 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 20648 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables transmembrane transporter binding activity. Acts upstream of or within neuromuscular junction development and regulation of vasoconstriction by circulating norepinephrine. Located in postsynaptic membrane and sarcolemma. Human ortholog(s) of this gene implicated in long QT syndrome; long QT syndrome 12; and sudden infant death syndrome. Orthologous to human SNTA1 (syntrophin alpha 1). PHENOTYPE: Mice homozygous for a targeted null allele display impaired astrocyte and neuromuscular synapse morphology. Mice homozygous for another targeted null allele show neither gross histological abnormalities in skeletal muscle nor significant changes in muscle contractile properties. [provided by MGI curators] |