TUSC3 tumor suppressor candidate 3
Gene ID: 7991, updated on 3-Apr-2024Gene type: protein coding
Also known as: M33; N33; MRT7; MRT22; MagT2; OST3A; D8S1992; SLC58A2
- See all available tests in GTR for this gene
- Go to complete Gene record for TUSC3
- Go to Variation Viewer for TUSC3 variants
Summary
This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital disorder of glycosylation MedGen: C0282577GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview | See labs |
| Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. GeneReviews: Not available | |
| Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia. GeneReviews: Not available | |
| Genome-wide association study of intelligence: additive effects of novel brain expressed genes. GeneReviews: Not available | |
| Genome-wide association study of lung function decline in adults with and without asthma. GeneReviews: Not available | |
| Intellectual disability, autosomal recessive 7 MedGen: C1970197OMIM: 611093GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview | See labs |
Genomic context
- Location:
- 8p22
- Sequence:
- Chromosome: 8; NC_000008.11 (15417188..15852091)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TUSC3 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
- TUSC3 database
- Variation ViewerRelated Variants
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