GLDN gliomedin
Gene ID: 342035, updated on 10-Oct-2024Gene type: protein coding
Also known as: CLOM; COLM; CRGL2; CRG-L2; LCCS11; UNC-112; UNC-122
- See all available tests in GTR for this gene
- Go to complete Gene record for GLDN
- Go to Variation Viewer for GLDN variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men. GeneReviews: Not available | |
| Lethal congenital contracture syndrome 11 | See labs |
Genomic context
- Location:
- 15q21.2
- Sequence:
- Chromosome: 15; NC_000015.10 (51341655..51413365)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GLDN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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