Literature associating TMEM258 and fetal akinesia deformation sequence syndrome
Transmembrane protein 258; Acts as 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. Required for full OST catalytic activity in N-glycosylation. Involved in endoplasmic reticulum (ER) homeostasis in the colonic epithelium (By similarity); Belongs to the TMEM258 family.
Synonyms: TMEM258, TMEM258p, hTMEM258, F5GWH5, F5H7Z5 ...