OSGEP O-sialoglycoprotein endopeptidase
Gene ID: 55644, updated on 7-Apr-2024Gene type: protein coding
Also known as: KAE1; TCS3; GCPL1; GAMOS3; OSGEP1; PRSMG1
- See all available tests in GTR for this gene
- Go to complete Gene record for OSGEP
- Go to Variation Viewer for OSGEP variants
Summary
Predicted to enable N(6)-L-threonylcarbamoyladenine synthase activity and metal ion binding activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytoplasm; nuclear speck; and plasma membrane. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 3. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Galloway-Mowat syndrome 3 | See labs |
Genomic context
- Location:
- 14q11.2
- Sequence:
- Chromosome: 14; NC_000014.9 (20446401..20454812, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for OSGEP 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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