DISEASES

Disease-gene associations mined from literature

Literature associating MAGT1 and X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

MAGT1 [ENSP00000354649]

Magnesium transporter protein 1; 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.

Synonyms:  MAGT1,  MAGT1p,  hMAGT1,  A0A087WU53,  Q9H0U3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM