disease:Defects in CABP4 are the cause of congenital stationary night blindness type 2B (CSNB2B) [MIM:610427]. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision.,function:May play a role in normal synaptic function, probably through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals. Modulator of CACNA1F, shifting the activation range to more hyperpolarized voltages.,similarity:Contains 4 EF-hand domains.,subcellular location:Found in rod spherules and cone pedicles of the presynapses from both types of photoreceptors.,subunit:Interacts with CACNA1F.,
Cytoplasm . Cell junction, synapse, presynapse . Found in rod spherules and cone pedicles of the presynapses from both types of photoreceptors. .
Expressed in retina and in the inner hair cells (IHC) of the cochlea.
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