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GENATLAS PHENOTYPE

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

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

Remark(s)

. homozygous deletion segregating with cataracts that encompasses exons 1B, 1C, 2 and 3 of GCNT2 (PMID: 21761136))