| Primary Identifier | MGI:1890498 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 94178 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity. Involved in several processes, including cellular response to calcium ion; cellular response to pH; and protein homotetramerization. Acts upstream of or within autophagosome maturation. Located in membrane. Is active in intracellular vesicle. Is expressed in several structures, including cochlea; genitourinary system; liver; lung; and spleen. Used to study mucolipidosis type IV. Human ortholog(s) of this gene implicated in glycoproteinosis and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1). PHENOTYPE: Mice homozygous for a null allele exhibit premature death around 8 months of age preceeded by weight loss, weakness, lethargy, bladder and stomach distension, and retinal degradation. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
