IndraLab

Statements

CACNA1F activates CSNB2A. 3 / 3
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"CSNB2A is caused by mutations in CACNA1F, the gene that codes for the pore forming alpha 1F subunit of the L-type voltage gated calcium channel, Ca v 1.4 [XREF_BIBR, XREF_BIBR]."
29179637
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"The original discovery of Ca V 1.4 is intimately associated with the phenotypic and genotypic characterization of a family of inherited retinal disorders, congenital stationary night blindness (CSNB), a subset of which (CSNB2A) is caused by mutations in CACNA1F."
29854783
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"Mutations associated with CSNB2 have been identified in two genes, CACNA1F and CABP4, which cause CSNB2A and CSNB2B, respectively [XREF_BIBR, XREF_BIBR, XREF_BIBR]."
29854783