Cacna1F Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
CACNA1F encodes the alpha1F subunit of voltage-gated calcium channels. It is expressed in retinal photoreceptors and is essential for synaptic transmission from photoreceptors to bipolar cells. Mutations cause congenital stationary night blindness type 2.
CACNA1F (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha1F) is a gene located on chromosome Xp11 that plays an important role in neurodegenerative disease. Mutations in CACNA1F are associated with Congenital Stationary Night Blindness, Åland Island Eye Disease. The gene is catalogued as NCBI Gene ID 778 and OMIM 300476.
The CACNA1F gene encodes a protein involved in key neuronal functions. It is expressed in Retina, Photoreceptors.
Expression data is available from the Allen Human Brain Atlas.
CACNA1F mutations are linked to the following conditions:
Congenital Stationary Night Blindness, Åland Island Eye Disease
The study of Cacna1F Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.