Disease-gene associations mined from literature

Literature associating STT3A and congenital disorder of glycosylation type IIe

STT3A [ENSP00000376472]

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A; Catalytic subunit 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. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). SST3A seems to be involved in complex substrate specificity. STT3A is present in the majority of OST complexes and mediates cotranslational N-glycosylation of most sites on target proteins, while STT3B-containing complexes are required for efficient post- translational glycosylation and mediate glycosylation of sites that have been skipped by STT3A; Oligosaccharyltransferase complex subunits

Synonyms:  STT3A,  STT3Ap,  hSTT3A,  E9PI32,  E9PN73 ...

Linkouts:  STRING  Pharos  UniProt  OMIM