DISEASES

Disease-gene associations mined from literature

Literature associating ALG11 and Schuurs-Hoeijmakers Syndrome

ALG11 [ENSP00000430236]

GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol- linked oligosaccharide chain; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.

Synonyms:  ALG11,  ALG11p,  hALG11,  Q2TAA5,  Q5TAP0 ...

Linkouts:  STRING  Pharos  UniProt