KEGG   VARIANT: 79053v1
Entry
79053v1                      Variant                               
Name
ALG8 deficiency
Type
Loss of function
Gene
ALG8  ALG8 alpha-1,3-glucosyltransferase [KO:K03849]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608103
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
  Authors
Chantret I, Dancourt J, Dupre T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE
  Title
A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.
  Journal
J Biol Chem 278:9962-71 (2003)
DOI:10.1074/jbc.M211950200
LinkDB

DBGET integrated database retrieval system