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GENATLAS PHENOTYPE

last update : 26-10-2018

Symbol	ARCC6
Location	22q11.23
Name	congenital cataract, autosomal recessive 6
Other name(s)	cataract 22, multiple types
Corresponding gene	CRYBB3
Other symbol(s)	CTRCT22
Main clinical features	nonsyndromic congenital cataract, nuclear cataract, present at birth or developed in infancy
Genetic determination	autosomal recessive
	autosomal recessive
Function/system disorder
Type	disease

Remark(s)

mutation associated with autosomal dominant posterior polar cataract abolishes the ability of CHMP4B to localize to micronuclei (PMID: 24741567))