| Primary Identifier | MGI:2157910 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 170790 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Predicted to be involved in several processes, including caveolin-mediated endocytosis; cellular response to cholesterol; and regulation of response to osmotic stress. Located in several cellular components, including apical plasma membrane; astrocyte end-foot; and cell-cell junction. Is expressed in several structures, including brain; eye; gut; male reproductive gland or organ; and spinal cord. Used to study megalencephalic leukoencephalopathy with subcortical cysts 1. Human ortholog(s) of this gene implicated in megalencephalic leukoencephalopathy with subcortical cysts 1. Orthologous to human MLC1 (modulator of VRAC current 1). PHENOTYPE: Mice homozygous for a null allele exhibit myelin vacuolization that progresses with age, and show alterations in glial cell and oligodendrocyte physiology. [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
