CNGB3

This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]

Description

cyclic nucleotide gated channel beta 3

Protein family

Membrane proteins predicted by MDM, Voltage-gated ion channels

Chromosome

8:q21.3 (87566205 - 87755903)

Ensembl ID

ENSG00000170289  (ver. 69.37)

Orthologs

Mouse Cngb3: ENSMUSG00000056494

Human splice variants
Mouse splice variants