ALG12
{{Short description|Enzyme-coding gene in humans}}
{{Infobox_gene}}
Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase is an enzyme that in humans is encoded by the ALG12 gene.{{cite journal | vauthors = Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE | 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 |date=Jul 2002 | pmid = 11983712 | doi = 10.1074/jbc.M203285200 | doi-access = free }}{{cite web | title = Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79087}}
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.
References
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Further reading
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- {{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=10.1023/B:BOLI.0000031221.44647.9e |s2cid=7608163 }}
- {{cite journal | vauthors=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=10.1097/01.mop.0000133636.56790.4a }}
- {{cite journal | vauthors=Dunham I, Shimizu N, Roe BA |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 |bibcode=1999Natur.402..489D |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Thiel C, Schwarz M, Hasilik M |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 | pmc=1222867 |display-authors=etal}}
- {{cite journal | vauthors=Grubenmann CE, Frank CG, Kjaergaard S |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=10.1093/hmg/11.19.2331 |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |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 | pmc=139241 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Zdebska E, Bader-Meunier B, Schischmanoff PO |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 |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Collins JE, Wright CL, Edwards CA |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 | pmc=545604 |display-authors=etal |doi-access=free }}
- {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |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 | pmc=528928 |display-authors=etal}}
- {{cite journal | vauthors=Wan D, Gong Y, Qin W |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.0404089101 | pmc=524842 |bibcode=2004PNAS..10115724W |display-authors=etal|doi-access=free }}
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External links
- [https://www.ncbi.nlm.nih.gov/books/NBK1332/ GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview]
- {{UCSC gene info|ALG12}}
{{Glycosyltransferases}}
{{gene-22-stub}}