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Entry
N00662                      Network                                

Name
ALG11 deficiency in N-glycan precursor biosynthesis
Definition
P-Dol -- ALG7 >> (ALG13+ALG14) >> ALG1 >> ALG2 >> ALG11*
  Expanded
C00110 -- 1798 >> (79868+199857) >> 56052 >> 85365 >> 440138v1
Class
nt06015 N-Glycan precursor biosynthesis
Type
Variant
Pathway
hsa00510  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Gene
1798  ALG7; dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
79868  ALG13; UDP-N-acetylglucosaminyltransferase subunit
199857  ALG14; UDP-N-acetylglucosaminyltransferase subunit
56052  ALG1; chitobiosyldiphosphodolichol beta-mannosyltransferase
85365  ALG2; alpha-1,3/1,6-mannosyltransferase
440138  ALG11; alpha-1,2-mannosyltransferase
Variant
440138v1  ALG11 deficiency
Metabolite
C00110  Dolichyl phosphate
Reference
  Authors
Thiel C, Rind N, Popovici D, Hoffmann GF, Hanson K, Conway RL, Adamski CR, Butler E, Scanlon R, Lambert M, Apeshiotis N, Thiels C, Matthijs G, Korner C
  Title
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
  Journal
Hum Mutat 33:485-7 (2012)
DOI:10.1002/humu.22019
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