KEGG   VARIANT: 1798v1
Entry
1798v1                      Variant                                
Name
ALG7 deficiency
Type
Loss of function
Gene
DPAGT1  dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 [KO:K01001]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191350
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:12872255
  Authors
Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH
  Title
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
  Journal
Hum Mutat 22:144-50 (2003)
DOI:10.1002/humu.10239
LinkDB

DBGET integrated database retrieval system