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References OMIM Gene GeneReviews HGMD HGNC
last update : 28-01-2014
Symbol BGIS
Location 6p24.1
Name blood group Ii system
Corresponding gene GCNT2
Main clinical features associated or not with congenital cataract
Genetic determination autosomal recessive
Function/system disorder hematology
Type other
Gene product
Name I branching enzyme GCNT2
Gene mutationChromosome rearrangementEffectComments
nonsense   truncated protein a homozygous GA substitution in base 58 of exon-2, associated with cataracts and the i blood group phenotype
Remark(s) . homozygous deletion segregating with cataracts that encompasses exons 1B, 1C, 2 and 3 of GCNT2 (PMID: 21761136))