transient receptor potential cation channel, subfamily C, member 3
Synonyms
moonwalker
Mwk
Biotype
protein coding gene
Automated Description
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 be part of cation channel complex. Predicted to be active in plasma membrane. Is expressed in several structures, including cochlea; ganglia; gonad; 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).
MGI Description
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]