Aliases for GLDN Gene
External Ids for GLDN Gene
Previous HGNC Symbols for GLDN Gene
Previous GeneCards Identifiers for GLDN Gene
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]
GeneCards Summary for GLDN Gene
GLDN (Gliomedin) is a Protein Coding gene. Diseases associated with GLDN include Lethal Congenital Contracture Syndrome 11 and Congenital Contractures. Gene Ontology (GO) annotations related to this gene include protein binding involved in heterotypic cell-cell adhesion. An important paralog of this gene is OLFM1.
UniProtKB/Swiss-Prot Summary for GLDN Gene
Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with NRCAM, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier.