DISEASES

Disease-gene associations mined from literature

Literature associating TUSC3 and autosomal recessive non-syndromic intellectual disability

TUSC3 [ENSP00000424544]

Magnesium uptake/transporter TUSC3; Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Has also oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition; Belongs to the OST3/OST6 family.

Synonyms:  TUSC3,  TUSC3p,  hTUSC3,  D6RA37,  D6RDV0 ...

Linkouts:  STRING  Pharos  UniProt