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Literature summary for 2.4.1.258 extracted from

  • Körner, C.; Knauer, R.; Stephani, U.; Marquardt, T.; Lehle, L.; von Figura, K.
    Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase (1999), EMBO J., 18, 6816-6822.
    View publication on PubMedView publication on EuropePMC

Protein Variants

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

Organism UniProt Comment Textmining
Homo sapiens Q92685
-
-

Synonyms

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 [°C] Temperature Optimum Maximum [°C] Comment Organism
25
-
assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
6.5
-
assay at Homo sapiens

General Information

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