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Gene : ALG12 Homo sapiens

Name  ? ALG12 alpha-1,6-mannosyltransferase Cytological Location  22q13.33
Brief Description  ALG12 alpha-1,6-mannosyltransferase
Description  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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • hALG12,
  • OTTHUMG00000150289,
  • dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase,
  • CDG1G,
  • CDG1G,
  • HGNC:19358,
  • PP14673,
  • AJ303120,
  • dol-P-Man dependent alpha-1,6-mannosyltransferase,
  • ECM39,
  • asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae),
  • ECM39,
  • NM_024105,
  • asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase),
  • uc003biy.4,
  • ALG12
  • identifiers:
  • 79087,
  • ENSG00000182858,
  • ALG12

Genome feature

Region: gene ? Length: 58307  
Location: 22:49860163-49918469 reverse strand Cyto location: 22q13.33

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1 Diseases

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3740 SNPs

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results