Adult i phenotype

Definition:

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.

References:

[1]. Eran Pras, et al. A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1940-5. [Content Brief]

[2]. Lung-Chih Yu, et al. Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis. Curr Opin Hematol. 2011 Nov;18(6):421-6. [Content Brief]

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