Primary Identifier | MGI:1891497 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 57340 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in several processes, including exploration behavior; regulation of neuronal synaptic plasticity; and regulation of ryanodine-sensitive calcium-release channel activity. Acts upstream of or within learning; locomotion; and neuromuscular process controlling balance. Located in endoplasmic reticulum membrane and plasma membrane. Part of junctional membrane complex. Is expressed in brain; ganglia; retina; spinal cord; and testis. Human ortholog(s) of this gene implicated in Huntington's disease-like 2. Orthologous to human JPH3 (junctophilin 3). PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination. [provided by MGI curators] |