STT3A STT3 oligosaccharyltransferase complex catalytic subunit A
Gene ID: 3703, updated on 7-Apr-2024Gene type: protein coding
Also known as: TMC; ITM1; STT3-A; CDG1WAD; CDG1WAR
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- Go to complete Gene record for STT3A
- Go to Variation Viewer for STT3A variants
Summary
The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital disorder of glycosylation, type Iw, autosomal dominant | See labs |
| Genome-wide association study identifies five new schizophrenia loci. GeneReviews: Not available | |
| Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. GeneReviews: Not available | |
| STT3A-congenital disorder of glycosylation | See labs |
Genomic context
- Location:
- 11q24.2
- Sequence:
- Chromosome: 11; NC_000011.10 (125591769..125623091)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STT3A 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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