OTOR otoraplin
Gene ID: 56914, updated on 17-Sep-2024Gene type: protein coding
Also known as: FDP; MIAL1
- See all available tests in GTR for this gene
- Go to complete Gene record for OTOR
- Go to Variation Viewer for OTOR variants
Summary
This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder. GeneReviews: Not available |
Genomic context
- Location:
- 20p12.1
- Sequence:
- Chromosome: 20; NC_000020.11 (16748358..16752164)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for OTOR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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