IndraLab

Statements

CACNA1F activates CSNB2. 3 / 3
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"Mutations in Cacna1f cause the CSNB2."
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"Congenital stationary night blindness 2 caused by mutations in CABP4 merely shows cone related problems and therefore appears to be distinct from CSNB2 caused by mutations in CACNA1F."
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"CSNB2 is most often caused by mutations in the CACNA1F gene (MIM # 300110) [XREF_BIBR, XREF_BIBR, XREF_BIBR], which encodes the alpha1F subunit of Ca v 1.4, a retina specific voltage gated L-type calcium-channel located in the membrane of photoreceptor and bipolar cell ribbon synapses [XREF_BIBR, XREF_BIBR]."
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