Protein Variants | Comment | Organism |
---|---|---|
G118D | missense mutation in patients with type IV of the carbohydrate deficient glycoprotein syndromes, characterized by microcephaly, severe epilepsy, minimal psychomotor development and partial deficiency of sialic acids in serum glycoproteins | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q92685 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
Dol-P-Man:Man5GlcNAc2-PP-Dol mannosyltransferase | - |
Homo sapiens |
dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase | - |
Homo sapiens |
Not56-like protein | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
25 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
6.5 | - |
assay at | Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | type IV of the carbohydrate deficient glycoprotein syndromes (CDGS) is characterized by microcephaly, severe epilepsy, minimal psychomotor development and partial deficiency of sialic acids in serum glycoproteins. The molecular defect in the index patient is a missense mutation in the gene encoding the mannosyltransferase that transfers mannose from dolichyl-phosphate mannose on to the lipid-linked oligosaccharide (LLO) intermediate Man(5)GlcNAc(2)-PP-dolichol. The defect results in the accumulation of the LLO intermediate and, due to its leaky nature, a residual formation of full-length LLOs. N-glycosylation is abnormal because of the transfer of truncated oligosaccharides in addition to that of full-length oligosaccharides and because of the incomplete utilization of N-glycosylation sites | Homo sapiens |