MFSD8 Gene Summary [Human]
This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | MFSD8 |
| Official Name | major facilitator superfamily domain containing 8 [Source:HGNC Symbol;Acc:HGNC:28486] |
| Ensembl ID | ENSG00000164073 |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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