KEGG   DISEASE: フコシル化の欠損を伴う先天性グリコシル化異常症
エントリ  
H02451                                                             
名称    
フコシル化の欠損を伴う先天性グリコシル化異常症
概要    
Congenital disorder of glycosylation with defective fucosylation (CDGF) is a rare inherited metabolic disorder due to abnormalities in fucosylation, which is an enzymatic process of incorporating L-fucose into the N- and O-glycans of proteins or glycolipids. Fucosylation requires both the generation of the donor substrate GDP-fucose and the presence of a set of fucosyltransferases.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C54  グリコシル化またはその他の明示されたタンパク質修飾の先天性異常
     H02451  フコシル化の欠損を伴う先天性グリコシル化異常症
パスウェイ 
hsa00051  Fructose and mannose metabolism
hsa00510  N-Glycan biosynthesis
病因遺伝子 
(CDGF1) FUT8 [HSA:2530] [KO:K00717]
(CDGF2) FCSK [HSA:197258] [KO:K05305]
リンク   
ICD-11: 5C54.Y
MeSH: D018981
OMIM: 618005 618324
文献    
PMID:29304374 (CDGF1)
  著者
Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH
  タイトル
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
  雑誌
Am J Hum Genet 102:188-195 (2018)
DOI:10.1016/j.ajhg.2017.12.009
文献    
PMID:30503518 (CDGF2)
  著者
Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Craigen WJ, Bearden DR, Graham BH, Freeze HH
  タイトル
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
  雑誌
Am J Hum Genet 103:1030-1037 (2018)
DOI:10.1016/j.ajhg.2018.10.021
LinkDB    

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