MESD mesoderm development LRP chaperone
Gene ID: 23184, updated on 4-Jan-2025Gene type: protein coding
Also known as: BOCA; OI20; MESDC2
- See all available tests in GTR for this gene
- Go to complete Gene record for MESD
- Go to Variation Viewer for MESD variants
Summary
Predicted to enable low-density lipoprotein particle receptor binding activity. Involved in ossification and protein folding. Located in endoplasmic reticulum. Implicated in osteogenesis imperfecta type 20. [provided by Alliance of Genome Resources, Jan 2025]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Osteogenesis imperfecta, type 20 | See labs |
Genomic context
- Location:
- 15q25.1
- Sequence:
- Chromosome: 15; NC_000015.10 (80946289..80989819, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MESD 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
- Variation ViewerRelated Variants
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