Mfsd8 Gene Summary [Mouse]
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). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Mfsd8 |
| Official Name | major facilitator superfamily domain containing 8 [Source:MGI Symbol;Acc:MGI:1919425] |
| Ensembl ID | ENSMUSG00000025759 |
| Bio databases IDs | |
| Aliases | major facilitator superfamily domain containing 8 |
| Synonyms | 2810423E13Rik, Ab2-276, AC160757.2, CCMD, CLN7, major facilitator superfamily domain containing 8, RGD1310132 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Mfsd8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- anion channel
- chloride channel
- Major Facilitator Superfamily
- inorganic anion transporter
- ion channel
- iodide transporter
- anion transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neuronal ceroid lipofuscinosis
- macular dystrophy with central cone involvement
- neuronal ceroid lipofuscinosis 7
- retinal dystrophy
- cerebellar ataxia
- hereditary disorder
- late-infantile neuronal ceroid lipofuscinosis
- optic atrophy
- hyperactive behavior
- retinitis pigmentosa
regulated by
role in cell
- apoptosis
- accumulation in
- swelling
- fusion
- differentiation
- development
- autophagy in
- accumulation
- function
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- cellular membrane
- lysosome
- Mitochondria
- lysosome membrane
- endosomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Mfsd8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome organization
- regulation of autophagy
- iodide transport
- neuron development
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- endosome membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- iodide transmembrane transporter activity
- chloride channel activity