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 No data available 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
Ensembl
UniProt
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 22: 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000182858 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035845 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  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. PMID 11983712. doi:10.1074/jbc.M203285200. 
  6. ^ a b "Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)". 

Further reading[edit]

External links[edit]