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| GENATLAS PHENOTYPE |
| last update : 27/12/2005 |
| Symbol | BGIS |
| Location | 6p24.1 |
| Name | blood group Ii system |
| Other name(s) | associated or not with congenital cataract |
| Corresponding gene | GCNT2 |
| Genetic determination | autosomal recessive |
| Function/system disorder | hematology |
| Type | other |
| Gene product |
| Name | I branching enzyme GCNT2 |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
|
| truncated protein
| a homozygous GA substitution in base 58 of exon-2, associated with cataracts and the i blood group phenotype
| |