Gene Symbol | GLDN |
Entrez Gene ID | 342035 |
Full Name | gliomedin |
Synonyms | CLOM,COLM,CRG-L2,CRGL2,LCCS11,UNC-112 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Lethal congenital contracture syndrome 11, 617194 (3) |