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Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man5 GlcNAc2-PP-dolichyl mannosyltransferase
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. Here we show that the molecular defect in the index patient is a missense mutation in...
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Published in: | The EMBO journal 1999-12, Vol.18 (23), p.6816-6822 |
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Main Authors: | , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Online Access: | Get full text |
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Summary: | 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. Here we show that 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. The mannosyltransferase is the structural and functional orthologue of the
Saccharomyces cerevisiae ALG3
gene. |
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ISSN: | 0261-4189 1460-2075 |
DOI: | 10.1093/emboj/18.23.6816 |