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GENATLAS PHENOTYPE

last update : 24/12/2008

Symbol	AXR2
Location	16q23.1
Name	Axenfeld-Rieger malformation 2
Corresponding gene	MAF
Main clinical features	hypoplasia of the anterior iris stroma, microcornea, anterior chamber synechiae, corneal opacity, elevated intraocular pressure and open angle juvenile onset glaucoma
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	disease

Gene product

Name	v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)

Remark(s)