ALG2

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ALG2
Identifiers
Aliases ALG2, CDGIi, NET38, hALPG2, CMS14, CMSTA3, alpha-1,3/1,6-mannosyltransferase, CDG1I
External IDs MGI: 1914731 HomoloGene: 5930 GeneCards: ALG2
Gene location (Human)
Chromosome 9 (human)
Chr. Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for ALG2
Genomic location for ALG2
Band 9q22.33 Start 99,216,426 bp[1]
End 99,221,956 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_033087
NM_197973

NM_019998

RefSeq (protein)

NP_149078

NP_064382

Location (UCSC) Chr 9: 99.22 – 99.22 Mb Chr 9: 47.47 – 47.47 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Alpha-1,3-mannosyltransferase ALG2 is an enzyme that is encoded by the ALG2 gene.[5] Mutations in the human gene are associated with congenital defects in glycosylation [6][7]

Function[edit]

This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii).[7]

Interactions[edit]

ALG2 has been shown to interact with ANXA7[8] and ANXA11.[8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119523 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039740 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Jackson BJ, Kukuruzinska MA, Robbins P (August 1993). "Biosynthesis of asparagine-linked oligosaccharides in Saccharomyces cerevisiae: the alg2 mutation". Glycobiology. 3 (4): 357–64. PMID 8400550. doi:10.1093/glycob/3.4.357. 
  6. ^ Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschütter A, von Figura K, Lehle L, Körner C (June 2003). "A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis". The Journal of Biological Chemistry. 278 (25): 22498–505. PMID 12684507. doi:10.1074/jbc.M302850200. 
  7. ^ a b "Entrez Gene: ALG2 asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)". 
  8. ^ a b Satoh H, Nakano Y, Shibata H, Maki M (November 2002). "The penta-EF-hand domain of ALG-2 interacts with amino-terminal domains of both annexin VII and annexin XI in a Ca2+-dependent manner". Biochimica et Biophysica Acta. 1600 (1-2): 61–7. PMID 12445460. doi:10.1016/S1570-9639(02)00445-4. 

Further reading[edit]

External links[edit]