Biology:ALG6
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Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG6 gene.[1][2][3]
Function
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic.[3]
References
- ↑ "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic". Proceedings of the National Academy of Sciences of the United States of America 96 (12): 6982–7. Jun 1999. doi:10.1073/pnas.96.12.6982. PMID 10359825. Bibcode: 1999PNAS...96.6982I.
- ↑ "A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency". Human Molecular Genetics 11 (5): 599–604. Mar 2002. doi:10.1093/hmg/11.5.599. PMID 11875054.
- ↑ 3.0 3.1 "Entrez Gene: ALG6 asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=29929.
Further reading
- "A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide". The Journal of Clinical Investigation 102 (4): 647–52. Aug 1998. doi:10.1172/JCI2266. PMID 9710431.
- "Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase". Proceedings of the National Academy of Sciences of the United States of America 95 (22): 13200–5. Oct 1998. doi:10.1073/pnas.95.22.13200. PMID 9789065. PMC 23759. Bibcode: 1998PNAS...9513200K. http://goedoc.uni-goettingen.de/goescholar/bitstream/handle/1/3444/319.%20Carbohydrate-deficient%20glycoprotein%20syndrome%20type%20V%20....pdf?sequence=1.
- "Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic". Human Genetics 106 (5): 538–45. May 2000. doi:10.1007/s004390050022. PMID 10914684.
- "Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic". Molecular Genetics and Metabolism 70 (3): 219–23. Jul 2000. doi:10.1006/mgme.2000.3017. PMID 10924277.
- "Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation". The American Journal of Pathology 157 (6): 1917–25. Dec 2000. doi:10.1016/S0002-9440(10)64830-4. PMID 11106564.
- "A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases". Journal of Medical Genetics 38 (1): 14–9. Jan 2001. doi:10.1136/jmg.38.1.14. PMID 11134235.
- "The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic". Journal of Human Genetics 46 (9): 547–8. 2001. doi:10.1007/s100380170038. PMID 11558905.
- "Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate". Molecular Biology and Evolution 19 (9): 1451–63. Sep 2002. doi:10.1093/oxfordjournals.molbev.a004208. PMID 12200473.
- "DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)". European Journal of Human Genetics 10 (10): 643–8. Oct 2002. doi:10.1038/sj.ejhg.5200858. PMID 12357336.
- "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Experimental Cell Research 288 (1): 35–50. Aug 2003. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157.
- "Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic". Human Mutation 22 (5): 420–1. Nov 2003. doi:10.1002/humu.9195. PMID 14517965.
- "Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation". Biochemical and Biophysical Research Communications 339 (3): 755–60. Jan 2006. doi:10.1016/j.bbrc.2005.11.073. PMID 16321363.
External links
- GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
- Human ALG6 genome location and ALG6 gene details page in the UCSC Genome Browser.
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