Biology:ALG12
From HandWiki
Short description: Enzyme-coding gene in humans
 Generic protein structure example |
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.[1][2]
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.[2]
References
- ↑ "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. Jul 2002. doi:10.1074/jbc.M203285200. PMID 11983712.
- ↑ 2.0 2.1 "Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79087.
Further reading
- Jaeken J (2005). "Congenital disorders of glycosylation (CDG): update and new developments". J. Inherit. Metab. Dis. 27 (3): 423–6. doi:10.1023/B:BOLI.0000031221.44647.9e. PMID 15272470.
- "Congenital disorders of glycosylation: a booming chapter of pediatrics". Curr. Opin. Pediatr. 16 (4): 434–9. 2004. doi:10.1097/01.mop.0000133636.56790.4a. PMID 15273506.
- "The DNA sequence of human chromosome 22". Nature 402 (6761): 489–95. 1999. doi:10.1038/990031. PMID 10591208. Bibcode: 1999Natur.402..489D.
- "Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig". Biochem. J. 367 (Pt 1): 195–201. 2003. doi:10.1042/BJ20020794. PMID 12093361.
- "ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg". Hum. Mol. Genet. 11 (19): 2331–9. 2003. doi:10.1093/hmg/11.19.2331. PMID 12217961.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig". Pediatr. Res. 54 (2): 224–9. 2004. doi:10.1203/01.PDR.0000072327.55955.F7. PMID 12736397.
- "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. 2005. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. 2004. doi:10.1073/pnas.0404089101. PMID 15498874. Bibcode: 2004PNAS..10115724W.
External links
- GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
- Human ALG12 genome location and ALG12 gene details page in the UCSC Genome Browser.
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