Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 26-10-2018
Symbol CZP3
Location 13q12.11
HGNC id 2659
Name cataract, zonular pulverulent 3
Other name(s)
  • cataract, zonular pulverulent 2
  • autosomal dominant cataract
  • cataract 14, multiple types
    • Corresponding gene GJA3
    Other symbol(s) CAE3, CZP2, CTRCT14
    Main clinical features
  • nuclear pulverulent cataract, Moorfields type
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name gap junction protein, alpha 3, 46kDa
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     Phenylalanine-Leucine substitution at the highly conserved codon 32 of the GJA3 protein.
    missense     F32L, N63S, P187L (PMID:10205266)
    insertion   truncated protein c.1137insC (PMID:10205266)
    missense     c.130G>A, p.V44M in a Caucasian American family (PMID:21897748)
    Remark(s)
    Genotype/Phenotype correlations
  • N63S mutation associated with fine dust-like opacities
  • F32L mutation associated with pulverulent (dust-like) or punctate opacities limited to the central (about 2 mm) zone or "embryonic nucleus" of the lens