KEGG   VARIANT: 29929v1
Entry
29929v1                      Variant                               
Name
ALG6 deficiency
Type
Loss of function
Gene
ALG6  ALG6 alpha-1,3-glucosyltransferase [KO:K03848]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604566
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:10359825
  Authors
Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T
  Title
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
  Journal
Proc Natl Acad Sci U S A 96:6982-7 (1999)
DOI:10.1073/pnas.96.12.6982
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