GLDN Gene Summary [Human]
This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]
Details
| Type | Protein Coding |
| Official Symbol | GLDN |
| Official Name | gliomedin [Source:HGNC Symbol;Acc:HGNC:29514] |
| Ensembl ID | ENSG00000186417 |
| Bio databases IDs | |
| Aliases | gliomedin |
| Synonyms | CLOM, COLM, CRG-L2, Crlg2, Gliomedin, Glmdn, LCCS11, UNC-112, UNC-122 |
| 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 GLDN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- Olfactomedin-like domain
- ectodomain
- cell adhesion molecule binding
- Collagen triple helix repeat (20 copies)
- protein binding
- olfactomedin domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- hereditary disorder
- lethal congenital contracture syndrome type 11
- bladder cancer
- pena-shokeir syndrome type I
- colon adenocarcinoma
- colon epithelial cancer
- colorectal cancer
- ataxia
- pericarditis
role in cell
- expression in
- formation
- organization
- abnormal morphology
- loss in
- length
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
- cell surface
- Extracellular Space
- Plasma Membrane
- nodes of Ranvier
- microvilli
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GLDN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- clustering of voltage-gated sodium channels
- microvillus organization
- signal transduction
- heterotypic cell-cell adhesion
Cellular Component
Where in the cell the gene product is active
- extracellular space
- collagen
- axon
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein binding involved in heterotypic cell-cell adhesion