KEGG   DISEASE: 成人i型
エントリ  
H01013                                                             
名称    
成人i型
概要    
Adult i phenotype is a rare autosomal recessive condition that was found to be highly associated with congenital cataract. The I and i antigens are carbohydrate structures on glycoproteins and glycolipids on the cell surface of a variety of tissues and body fluids. Most adult red blood cells (RBCs) abundantly express I antigen. Conversion of the i antigen into an I structure takes place during the first 18 months after birth as a result of the expression of a specific transferase, I-branching GCNT2. Lack of this enzyme results in the adult i phenotype.
カテゴリ  
血液疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 03 血液・造血器の疾患
  3C0Y  その他の明示された血液・造血器の疾患
   H01013  成人i型
パスウェイ 
hsa00601  Glycosphingolipid biosynthesis - lacto and neolacto series
病因遺伝子 
GCNT2 [HSA:2651] [KO:K00742]
リンク   
ICD-11: 3C0Y
MeSH: D007048
OMIM: 110800
文献    
  著者
Yu LC, Lin M
  タイトル
Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis.
  雑誌
Curr Opin Hematol 18:421-6 (2011)
DOI:10.1097/MOH.0b013e32834baae9
文献    
  著者
Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF
  タイトル
A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.
  雑誌
Invest Ophthalmol Vis Sci 45:1940-5 (2004)
DOI:10.1167/iovs.03-1117
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