DISEASES

Disease-gene associations mined from literature

Literature associating TMEM258 and fetal akinesia deformation sequence syndrome

TMEM258 [ENSP00000443216]

Transmembrane protein 258; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. 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). All subunits are required for a maximal enzyme activity . Involved in ER homeostasis in the colonic epithelium (By similarity).

Synonyms:  TMEM258,  TMEM258p,  hTMEM258,  F5GWH5,  F5H7Z5 ...

Linkouts:  STRING  Pharos  UniProt