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ALG12








ALG12


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ALG12
Identifiers
Aliases
ALG12, CDG1G, ECM39, PP14673, halpha-1,6-mannosyltransferase
External IDs MGI: 2385025 HomoloGene: 36269 GeneCards: ALG12


















Gene location (Human)
Chromosome 22 (human)
Chr. Chromosome 22 (human)[1]

Chromosome 22 (human)
Genomic location for ALG12

Genomic location for ALG12

Band 22q13.33 Start 49,900,229 bp[1]
End 49,918,458 bp[1]























RNA expression pattern
PBB GE ALG12 218444 at fs.png
More reference expression data















Orthologs
Species Human Mouse
Entrez


79087


223774
Ensembl


ENSG00000182858


ENSMUSG00000035845
UniProt


Q9BV10


Q8VDB2
RefSeq (mRNA)


NM_024105


NM_001142357
NM_145477
RefSeq (protein)


NP_077010


NP_001135829
NP_663452
Location (UCSC) Chr 22: 49.9 – 49.92 Mb Chr 15: 88.81 – 88.82 Mb

PubMed search		 [3] [4]
Wikidata



View/Edit Human View/Edit Mouse

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.[5][6]


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.[6]



References[edit]





  1. ^ abc GRCh38: Ensembl release 89: ENSG00000182858 - Ensembl, May 2017


  2. ^ abc GRCm38: Ensembl release 89: ENSMUSG00000035845 - Ensembl, May 2017


  3. ^ "Human PubMed Reference:"..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output q{quotes:"""""""'""'"}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/6/65/Lock-green.svg/9px-Lock-green.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-limited a,.mw-parser-output .cs1-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Lock-gray-alt-2.svg/9px-Lock-gray-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Lock-red-alt-2.svg/9px-Lock-red-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{font-size:100%}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}


  4. ^ "Mouse PubMed Reference:".


  5. ^ 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 (Jul 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.


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




Further reading[edit]


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  • 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.


  • Jaeken J, Carchon H (2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics". Curr. Opin. Pediatr. 16 (4): 434–9. doi:10.1097/01.mop.0000133636.56790.4a. 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.


  • 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. PMC 1222867. 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. doi:10.1093/hmg/11.19.2331. 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. PMC 139241. 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. PMC 545604. 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. PMC 528928. 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. PMC 524842. PMID 15498874.




External links[edit]



  • 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.















Retrieved from "https://en.wikipedia.org/w/index.php?title=ALG12&oldid=797877336"





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