Disease-gene associations mined from literature

Literature associating TMEM258 and fetal akinesia deformation sequence syndrome

TMEM258 [ENSP00000443216]

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 ...

Linkouts:  STRING  Pharos  UniProt