KEGG   VARIANT: 79087v1
Entry
79087v1                      Variant                               
Name
ALG12 deficiency
Type
Loss of function
Gene
ALG12  ALG12 alpha-1,6-mannosyltransferase [KO:K03847]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607144
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:11983712
  Authors
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
  Title
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
  Journal
J Biol Chem 277:25815-22 (2002)
DOI:10.1074/jbc.M203285200
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