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TUSC3 tumor suppressor candidate 3

Gene ID: 7991, updated on 28-Oct-2024
Gene type: protein coding
Also known as: M33; N33; MRT7; MRT22; MagT2; OST3A; D8S1992; SLC58A2

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

DescriptionTests
Congenital disorder of glycosylationSee 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 7See labs

Genomic context

Location:
8p22
Sequence:
Chromosome: 8; NC_000008.11 (15417188..15852091)
Total number of exons:
23

Links

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