| H01013 | |
| H number | H01013 |
| Name | Adult i phenotype |
| Description | 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. |
| Category | Hematologic disease |
| Network | - |
| Gene | GCNT2 [HSA:2651] [KO:K00742] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | OMIM: 110800 |
| Reference | PMID:21912254 AUTHORS Yu LC, Lin M TITLE Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis. JOURNAL Curr Opin Hematol 18:421-6 (2011) DOI:10.1097/MOH.0b013e32834baae9 PMID:15161861 AUTHORS Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF TITLE A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. JOURNAL Invest Ophthalmol Vis Sci 45:1940-5 (2004) DOI:10.1167/iovs.03-1117 |