- ALG12
Asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase), also known as ALG12, is a human
gene .cite web | title = Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79087| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation.cite web | title = Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79087| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Jaeken J |title=Congenital disorders of glycosylation (CDG): update and new developments. |journal=J. Inherit. Metab. Dis. |volume=27 |issue= 3 |pages= 423–6 |year= 2005 |pmid= 15272470 |doi=
*cite journal | author=Jaeken J, Carchon H |title=Congenital disorders of glycosylation: a booming chapter of pediatrics. |journal=Curr. Opin. Pediatr. |volume=16 |issue= 4 |pages= 434–9 |year= 2004 |pmid= 15273506 |doi=
*cite journal | author=Dunham I, Shimizu N, Roe BA, "et al." |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489–95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031
*cite journal | author=Chantret I, Dupré T, Delenda C, "et al." |title=Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. |journal=J. Biol. Chem. |volume=277 |issue= 28 |pages= 25815–22 |year= 2002 |pmid= 11983712 |doi= 10.1074/jbc.M203285200
*cite journal | author=Thiel C, Schwarz M, Hasilik M, "et al." |title=Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. |journal=Biochem. J. |volume=367 |issue= Pt 1 |pages= 195–201 |year= 2003 |pmid= 12093361 |doi= 10.1042/BJ20020794
*cite journal | author=Grubenmann CE, Frank CG, Kjaergaard S, "et al." |title=ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. |journal=Hum. Mol. Genet. |volume=11 |issue= 19 |pages= 2331–9 |year= 2003 |pmid= 12217961 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Zdebska E, Bader-Meunier B, Schischmanoff PO, "et al." |title=Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. |journal=Pediatr. Res. |volume=54 |issue= 2 |pages= 224–9 |year= 2004 |pmid= 12736397 |doi= 10.1203/01.PDR.0000072327.55955.F7
*cite journal | author=Collins JE, Wright CL, Edwards CA, "et al." |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Wan D, Gong Y, Qin W, "et al." |title=Large-scale cDNA transfection screening for genes related to cancer development and progression. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 44 |pages= 15724–9 |year= 2004 |pmid= 15498874 |doi= 10.1073/pnas.0404089101PBB_Controls
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