Primary Identifier | MGI:109526 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 22065 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable calcium-activated cation channel activity; inositol 1,4,5 trisphosphate binding activity; and store-operated calcium channel activity. Predicted to be involved in several processes, including positive regulation of calcium ion transport into cytosol; positive regulation of cardiac muscle hypertrophy in response to stress; and response to ATP. Predicted to act upstream of or within calcium ion transport and monoatomic ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of cation channel complex. Predicted to be active in plasma membrane. Is expressed in several structures, including cochlea; ganglia; skeletal muscle; spinal cord; and trunk somite. Human ortholog(s) of this gene implicated in cerebellar ataxia type 41. Orthologous to human TRPC3 (transient receptor potential cation channel subfamily C member 3). PHENOTYPE: Homozygous knockout mice or mice heterozygoous for a point mutation in exon 7 display an abnormal gait. Abnormal nervous system electrophysiology is also described. An A1903G point mutation in exon 7 results in homozygous lethality. [provided by MGI curators] |