Disease-gene associations mined from literature

Literature associating MAGT1 and immunodeficiency 13

MAGT1 [ENSP00000354649]

Implantation-associated protein; 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 TUSC3. 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; Oligosaccharyltransferase complex subunits

Synonyms:  MAGT1,  MAGT1p,  hMAGT1,  MAGT1-001,  MAGT1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM