| 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 7.4.0) Enables iron ion transmembrane transporter activity and monoatomic ion 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 Lisch epithelial corneal dystrophy; 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
