Primary Identifier | MGI:2675603 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 225997 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables monoatomic cation channel activity and protein kinase activity. Acts upstream of or within metal ion transport. Located in apical plasma membrane and brush border membrane. Is expressed in several structures, including cochlea; colon; extraembryonic component; ganglia; and genitourinary system. Human ortholog(s) of this gene implicated in intestinal hypomagnesemia 1 and metal metabolism disorder. Orthologous to human TRPM6 (transient receptor potential cation channel subfamily M member 6). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic and postnatal lethality with exencephaly, spina bifida occulta, and abnormal brain and facial development. Mice heterozygous for a knock-out allele exhibit some premature death and decreased serummagnesium. [provided by MGI curators] |