CLN8 Gene Summary [Human]
This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]
Details
| Type | Protein Coding |
| Official Symbol | CLN8 |
| Official Name | CLN8 transmembrane ER and ERGIC protein [Source:HGNC Symbol;Acc:HGNC:2079] |
| Ensembl ID | ENSG00000182372 |
| Bio databases IDs | |
| Aliases | CLN8 transmembrane ER and ERGIC protein |
| Synonyms | C8orf61, CLN8 transmembrane ER and ERGIC protein, CLN8, transmembrane ER and ERGIC protein, EPMR, LOC101927714, mnd, TLCD6 |
| 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 CLN8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TLC domain
- sphingolipid binding
- binding protein
- protein binding
- cytosolic tail domain
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
- hereditary disorder
- neuronal ceroid lipofuscinosis 8
- neuronal ceroid lipofuscinosis 8 northern epilepsy variant
role in cell
- binding in
- apoptosis
- differentiation
- size
- organization
- maintenance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Endoplasmic Reticulum
- ER-to-Golgi intermediate compartment
- endoplasmic reticulum membrane
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLN8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retina development in camera-type eye
- regulation of cell size
- cholesterol metabolic process
- nervous system development
- ceramide biosynthetic process
- negative regulation of proteolysis
- associative learning
- phospholipid metabolic process
- negative regulation of neuron apoptotic process
- adult walking behavior
- photoreceptor cell maintenance
- social behavior
- lysosome organization
- neurofilament cytoskeleton organization
- lipid homeostasis
- protein catabolic process
- lipid biosynthetic process
- somatic motor neuron differentiation
- ceramide metabolic process
- visual perception
- mitochondrial membrane organization
- neuromuscular process controlling posture
- lipid transport
- musculoskeletal movement
- glutamate uptake involved in synaptic transmission
- neuromuscular process controlling balance
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- mitochondrion
- endoplasmic reticulum
- endoplasmic reticulum-Golgi intermediate compartment
- endoplasmic reticulum-Golgi intermediate compartment membrane
Molecular Function
What the gene product does at the molecular level
- ceramide binding
- protein binding