EC 2.4.1.83
Alternative name(s):
- Dolichol-phosphate mannose synthase
- Short name=DPM synthase
- Dolichyl-phosphate beta-D-mannosyltransferase
- Mannose-P-dolichol synthase
- Short name=MPD synthase
Function
GDP-マンノースをドリコール一リン酸に転移してマンノース転移のドナーとなるドリコール一リン酸を合成する。N型糖鎖合成、糖化ホスファチジルイノシトール膜アンカー、O-マンノシルタンパク質合成に用いられる。
Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins.
Pathway
Protein modification; protein glycosylation.
Subcellular location
Endoplasmic reticulum.
Involvement in disease
Defects in DPM1 are the cause of congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]. CDGs are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1E is an autosomal recessive disorder, characterized by severe developmental delay, hypotnia, seizures, and dysmorphic features. Ref.14 Ref.15 Ref.16
Sequence similarities
Belongs to the glycosyltransferase 2 family.
