KEGG   VARIANT: 85365v1
Entry
85365v1                      Variant                               
Name
ALG2 deficiency
Type
Loss of function
Gene
ALG2  ALG2 alpha-1,3/1,6-mannosyltransferase [KO:K03843]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607905
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
  Authors
Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschutter A, von Figura K, Lehle L, Korner C.
  Title
A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.
  Journal
J Biol Chem 278:22498-505 (2003)
DOI:10.1074/jbc.M302850200
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