| Primary Identifier | MGI:1919425 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 72175 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chloride channel activity. Acts upstream of or within several processes, including TORC1 signaling; neurogenesis; and regulation of catabolic process. Located in lysosome and membrane. Is active in mitochondrion. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Used to study neuronal ceroid lipofuscinosis 7. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 7. Orthologous to human MFSD8 (major facilitator superfamily domain containing 8). PHENOTYPE: Mice homozygous for a null allele exhibit accumulation of autofluorescent material in the brain and peripheral tissues, retinal photoreceptor degeneration, presence of dense lamellar bodies in neurons, and a late-onset reactive gliosis and subtle astrogliosis in the brain. [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
