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<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 | + | '''Description of YNL219C:''' Mannosyltransferase, involved in N-linked glycosylation; catalyzes both the transfer of seventh mannose residue on B-arm and ninth mannose residue on the C-arm 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='S000138507'>Frank CG and Aebi M (2005) ALG9 mannosyltransferase is involved in two different steps of lipid-linked oligosaccharide biosynthesis. Glycobiology 15(11):1156-63 {{SGDpaper|S000138507}} PMID 15987956</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|S000076800}} PMID 15148656</ref> | {{SGDpaper|S000076800}} PMID 15148656</ref> | ||
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Latest revision as of 14:05, 5 April 2012
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| Systematic name | YNL219C |
| Gene name | ALG9 |
| Aliases | |
| Feature type | ORF, Verified |
| Coordinates | Chr XIV:237663..235996 |
| Primary SGDID | S000005163 |
Description of YNL219C: Mannosyltransferase, involved in N-linked glycosylation; catalyzes both the transfer of seventh mannose residue on B-arm and ninth mannose residue on the C-arm from Dol-P-Man to lipid-linked oligosaccharides; mutation of the human ortholog causes type 1 congenital disorders of glycosylation[1][2][3]
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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 and Aebi M (2005) ALG9 mannosyltransferase is involved in two different steps of lipid-linked oligosaccharide biosynthesis. Glycobiology 15(11):1156-63 SGD PMID 15987956
- ↑ 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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