Difference between revisions of "YNL219C"
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− | '''Description of YNL219C:''' Mannosyltransferase, involved in N-linked glycosylation; catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides; mutation of the human ortholog causes type 1 congenital disorders of glycosylation | + | '''Description of YNL219C:''' Mannosyltransferase, involved in N-linked glycosylation; catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides; mutation of the human ortholog causes type 1 congenital disorders of glycosylation<ref name='S000046181'>Burda P, et al. (1996) Stepwise assembly of the lipid-linked oligosaccharide in the endoplasmic reticulum of Saccharomyces cerevisiae: identification of the ALG9 gene encoding a putative mannosyl transferase. Proc Natl Acad Sci U S A 93(14):7160-5 {{SGDpaper|S000046181}} PMID 8692962</ref><ref name='S000076800'>Frank CG, et al. (2004) Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Am J Hum Genet 75(1):146-50 |
− | {{SGDpaper| | + | {{SGDpaper|S000076800}} PMID 15148656</ref> |
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Revision as of 13:05, 31 March 2009
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Systematic name | YNL219C |
Gene name | ALG9 |
Aliases | |
Feature type | ORF, Verified |
Coordinates | Chr XIV:237664..235997 |
Primary SGDID | S000005163 |
Description of YNL219C: Mannosyltransferase, involved in N-linked glycosylation; catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides; mutation of the human ortholog causes type 1 congenital disorders of glycosylation[1][2]
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References
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- ↑ Burda P, et al. (1996) Stepwise assembly of the lipid-linked oligosaccharide in the endoplasmic reticulum of Saccharomyces cerevisiae: identification of the ALG9 gene encoding a putative mannosyl transferase. Proc Natl Acad Sci U S A 93(14):7160-5 SGD PMID 8692962
- ↑ Frank CG, et al. (2004) Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Am J Hum Genet 75(1):146-50 SGD PMID 15148656
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