ALG12

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Asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)
Identifiers
Symbol(s) ALG12; ECM39; MGC111358; MGC3136; PP14673; hALG12
External IDs OMIM: 607144 HomoloGene: 36269
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 79087 n/a
Ensembl ENSG00000182858 n/a
Uniprot Q9BV10 n/a
Refseq NM_024105 (mRNA)
NP_077010 (protein)		 n/a (mRNA)
n/a (protein)
Location Chr 22: 48.68 - 48.7 Mb n/a
Pubmed search [1] n/a

Asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase), also known as ALG12, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase).

[edit] Further reading

  • Jaeken J (2005). "Congenital disorders of glycosylation (CDG): update and new developments.". J. Inherit. Metab. Dis. 27 (3): 423–6. PMID 15272470. 
  • Jaeken J, Carchon H (2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics.". Curr. Opin. Pediatr. 16 (4): 434–9. PMID 15273506. 
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208. 
  • Chantret I, Dupré T, Delenda C, et al. (2002). "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.". J. Biol. Chem. 277 (28): 25815–22. doi:10.1074/jbc.M203285200. PMID 11983712. 
  • Thiel C, Schwarz M, Hasilik M, et al. (2003). "Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.". Biochem. J. 367 (Pt 1): 195–201. doi:10.1042/BJ20020794. PMID 12093361. 
  • Grubenmann CE, Frank CG, Kjaergaard S, et al. (2003). "ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.". Hum. Mol. Genet. 11 (19): 2331–9. PMID 12217961. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Zdebska E, Bader-Meunier B, Schischmanoff PO, et al. (2004). "Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.". Pediatr. Res. 54 (2): 224–9. doi:10.1203/01.PDR.0000072327.55955.F7. PMID 12736397. 
  • Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression.". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. doi:10.1073/pnas.0404089101. PMID 15498874. 
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