SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
Gene ID: 51091, updated on 3-Apr-2024Gene type: protein coding
Also known as: LP; SLA; SecS; PCH2D; SLA/LP; SLA-p35
- See all available tests in GTR for this gene
- Go to complete Gene record for SEPSECS
- Go to Variation Viewer for SEPSECS variants
Summary
The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Pontocerebellar hypoplasia type 2D | See labs |
Genomic context
- Location:
- 4p15.2
- Sequence:
- Chromosome: 4; NC_000004.12 (25120014..25160582, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SEPSECS 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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