| H01013 | |
| H番号 | 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 |
| ネットワーク | - |
| 病因遺伝子 | GCNT2 [HSA:2651] [KO:K00742] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | OMIM: 110800 |
| 文献 | PMID:21912254 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 PMID:15161861 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 |