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FLASH GENE
Symbol CNGB3 contributors: mct/pgu/shn - updated : 21-06-2016
HGNC name cyclic nucleotide gated channel beta 3
HGNC id 2153
ASSOCIATED DISORDERS
corresponding disease(s) ACHM3 , RCD3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
leads to reduced cone function
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neurosensorialvisualretina
modulation of rod CNGB3 channel activity is a most promising target for the treatment in retinal degenerations with elevated cellular levels of cGMP
ANIMAL & CELL MODELS
  • CNGB3(-/-) mice display early cone dysfunctions and loss of CNGB3 reduces biosynthesis of CNGA3 and impairs cone CNG channel function (
  • early-onset, slow progression of cone functional defects, cone loss and cone signaling deficits in CNGB3-/- mice (