ALG12

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ALG12, alpha-1,6-mannosyltransferase
Identifiers
Symbols ALG12 ; CDG1G; ECM39; PP14673; hALG12
External IDs OMIM607144 HomoloGene36269 GeneCards: ALG12 Gene
EC number 2.4.1.260
RNA expression pattern
PBB GE ALG12 218444 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 79087 223774
Ensembl ENSG00000182858 ENSMUSG00000035845
UniProt Q9BV10 Q8VDB2
RefSeq (mRNA) NM_024105 NM_001142357
RefSeq (protein) NP_077010 NP_001135829
Location (UCSC) Chr 22:
50.3 – 50.31 Mb
Chr 15:
88.81 – 88.82 Mb
PubMed search [1] [2]

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[edit]

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

Further reading[edit]

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