CLN6 Gene Summary [Human]
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | CLN6 |
| Official Name | CLN6 transmembrane ER protein [Source:HGNC Symbol;Acc:HGNC:2077] |
| Ensembl ID | ENSG00000128973 |
| Bio databases IDs | |
| Aliases | CLN6 transmembrane ER protein |
| Synonyms | 1810065L06Rik, ceroid-lipofuscinosis, neuronal 6, CLN4A, CLN6A, CLN6 transmembrane ER protein, CLN6, transmembrane ER protein, D9Bwg1455e, HsT18960, nclf |
| 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 CLN6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- lipid binding
- binding protein
- Ceroid-lipofuscinosis neuronal protein 6
- protein homodimerization
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- variant late-infantile neuronal ceroid-lipofuscinosis
- neuronal ceroid lipofuscinosis
- hereditary disorder
- neuronal ceroid lipofuscinosis 6B
- cystic fibrosis
- hereditary spastic ataxia
- laser induced choroidal neovascularization
- neurodevelopmental disorder
- cutaneous melanoma
- cutaneous melanoma cancer
regulated by
- metribolone
- levodopa
- SL 327
- ELAVL1
regulates
- cholesterol
- ganglioside
- glycosaminoglycan
- hemoglobin
role in cell
- 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.
- Cytoplasm
- intracellular membrane-bounded organelle
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- nucleoli
- early endosomes
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLN6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome organization
- locomotion involved in locomotory behavior
- protein catabolic process
- lysosomal lumen acidification
- cholesterol metabolic process
- positive regulation of proteolysis
- visual perception
- ganglioside metabolic process
- glycosaminoglycan metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- early endosome
- intracellular membrane-bounded organelle
- membrane raft
- membrane
- endoplasmic reticulum
- nucleolus
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- protein binding
- lysophosphatidic acid binding