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FLASH GENE

Symbol

CACNA1F

contributors: shn/npt - updated : 26-05-2016

HGNC name	calcium channel, voltage-dependent, L type, alpha 1F subunit
HGNC id	1393

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CSNB2A , CORDX3 , AIED

related resource

L-Type Calcium Channel Mutations Retinal Information Network

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       a patient with a deletion of a cytosine at position 4548 in exon 39, resulting in a frameshift and a truncated protein at position 1524, with a loss a 450 residues at the C terminus

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mouse with a loss-of-function mutation of Cacna1f gene has neither Cone ERG nor visual evoked potentials responses and has profound loss of photoreceptor synapses, and abnormal dendritic sprouting of second-order neurons in the photoreceptor layer (Mansergh et al, 2005)
	in mice lacking Cav 1.4 channels, there are defects in the development of "ribbon" synapses formed between photoreceptors (PRs) and second-order neurons
	Cacna1f-knockout mice show an apparent lack of visual function, gradual retinal degeneration, and disruption of photoreceptor synaptic terminals