KEGG DISEASE: Adult i phenotype

KEGG

DISEASE: Adult i phenotype

Entry

H01013                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
3C0Y Other specified diseases of the blood or blood-forming organs
H01013 Adult i phenotype

Pathway

Glycosphingolipid biosynthesis - lacto and neolacto series

Gene

GCNT2 [HSA:2651] [KO:K00742]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

Reference

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

LinkDB

» Japanese version

DBGET integrated database retrieval system