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References OMIM Gene GeneReviews HGMD HGNC
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
  • mutation associated with autosomal dominant posterior polar cataract abolishes the ability of CHMP4B to localize to micronuclei (PMID: 24741567))