Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 26-10-2018

Symbol	CZP2
Location	10p13
Name	cataract, zonular pulverulant 3
Other name(s)	cataract multiple type 30
Corresponding gene	VIM
Other symbol(s)	CTRCT30
Main clinical features	pulverulant cataract which was dust-like cataract in parts of the lens
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	disease

Remark(s)

mutation causes a severe kinetic defect in vimentin (Muller 2009)