LGI4 Gene Summary [Human]
Involved in regulation of myelination. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in arthrogryposis multiplex congenita-1 and childhood absence epilepsy. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | LGI4 |
| Official Name | leucine rich repeat LGI family member 4 [Source:HGNC Symbol;Acc:HGNC:18712] |
| Ensembl ID | ENSG00000153902 |
| Bio databases IDs | |
| Aliases | leucine rich repeat LGI family member 4 |
| Synonyms | AMC1, AMCNMY, clp, leucine rich repeat LGI family member 4, leucine-rich repeat LGI family, member 4, LGIL3 |
| 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 LGI4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Leucine-rich repeats, outliers
- Leucine-rich repeats, typical (most populated) subfamily
- Leucine rich repeat
- Leucine rich repeat C-terminal domain
- protein binding
- Leucine Rich repeats (2 copies)
- EPTP domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cervical cancer
- neurogenic arthrogryposis multiplex congenita with myelin defect
- hereditary disorder
- Hodgkin lymphoma
- Hodgkin disease
- epithelial uterine cancer
- androgenic alopecia
- neurogenic arthrogryposis multiplex congenita
- Huntington disease
- cervical small cell carcinoma
role in cell
- proliferation
- development
- maturation
- myelination
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cell surface
- Plasma Membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LGI4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- myelination in peripheral nervous system
- neuron maturation
- regulation of myelination
- adult locomotory behavior
- glial cell proliferation
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular region