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Reviewed May 2009
What is the official name of the CACNA1F gene?
The official name of this gene is “calcium channel, voltage-dependent, L type, alpha 1F subunit.”
CACNA1F is the gene's official symbol. The CACNA1F gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CACNA1F gene?
The CACNA1F gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (calcium ions) across cell membranes, play a key role in a cell's ability to generate and transmit electrical signals.
The CACNA1F gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV1.4. This subunit forms the hole (pore) in the cell membrane through which calcium ions can flow. CaV1.4 channels are found in many types of cells, although they play a particularly important role in a specialized tissue at the back of the eye called the retina. Within the retina, the channels are located in light-detecting cells called photoreceptors. The retina contains two types of photoreceptors: rods and cones. Rods are responsible for vision in low light. Cones provide vision in bright light, including color vision.
CaV1.4 channels appear to play a critical role in normal vision. Studies suggest they help relay visual signals from rods and cones to other retinal cells called bipolar cells. This signaling is an essential step in the transmission of visual information from the eyes to the brain.
Does the CACNA1F gene share characteristics with other genes?
The CACNA1F gene belongs to a family of genes called CACN (calcium channels).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the CACNA1F gene related to health conditions?
Where is the CACNA1F gene located?
Cytogenetic Location: Xp11.23
Molecular Location on the X chromosome: base pairs 49,205,063 to 49,233,671
The CACNA1F gene is located on the short (p) arm of the X chromosome at position 11.23.
More precisely, the CACNA1F gene is located from base pair 49,205,063 to base pair 49,233,671 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CACNA1F?
You and your healthcare professional may find the following resources about CACNA1F helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CACNA1F gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CACNA1F?
amino acid ; astigmatism ; atrophy ; calcium ; cell ; cell membrane ; channel ; cones ; congenital ; disability ; gene ; involuntary ; ions ; ion transport ; mutation ; myopia ; nearsightedness ; nystagmus ; photophobia ; photoreceptor ; protein ; retina ; rods ; sensitivity ; strabismus ; subunit ; synapse ; syndrome ; tissue ; visual acuity ; voltage
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (15 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.