Primary Identifier | MGI:1915917 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 68667 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP binding activity; calcium channel activity; and calcium-activated cation channel activity. Involved in several processes, including cellular response to ATP; dendritic cell chemotaxis; and protein homotetramerization. Acts upstream of or within calcium ion transport. Located in plasma membrane. Is expressed in brain; cochlea; dorsal root ganglion; inferior vagus ganglion; and vagus ganglion. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis et progressiva 6 and progressive familial heart block type IB. Orthologous to human TRPM4 (transient receptor potential cation channel subfamily M member 4). PHENOTYPE: Mice homozygous for a knock-out allele display increased Ca2+ influx and IgE-dependent mast cell activation, increased vascular permeability, and enhanced acute anaphylactic responses. Mice homozygous for a different knock-out allele show Ca2+ overload and impaired dendritic cell migration. [provided by MGI curators] |