TUSC3

Chr 8AR

tumor suppressor candidate 3

Also known as: D8S1992, M33, MRT22, MRT7, MagT2, N33, OST3A, SLC58A2

NCBI Gene: 7991 ENSG00000104723 UniProt: Q13454 OMIM: 601385

The TUSC3 protein functions as an accessory component of the N-oligosaccharyl transferase complex in the endoplasmic reticulum, catalyzing N-linked protein glycosylation and facilitating glycosylation of acceptor sites near cysteine residues. Homozygous mutations cause autosomal recessive intellectual developmental disorder, with this gene being extremely intolerant to loss-of-function variants (pLI ~0.000003). The disorder follows an autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 7MIM #611093

Clinical highlights

Gene-disease validity (ClinGen)

intellectual disability · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.93

LOEUF

LOF

Mechanism· G2P