Children: Ion channels
Bestrophin 1 (BEST1) is a protein that is encoded by the BEST1 gene in humans. It is primarily expressed in retinal cells, particularly in the retinal pigment epithelium (RPE), and plays an important role in the function of the retina. Bestrophin 1 is believed to be involved in the regulation of ion channels, particularly chloride channels, and is thought to have a role in maintaining the ionic balance and fluid homeostasis in the eye.
CACNA1G is a gene that encodes a subunit of a voltage-gated calcium channel. Specifically, it is part of the family of calcium channel genes that contribute to the formation of L-type calcium channels, which are essential for a variety of physiological processes, including muscle contraction, neurotransmitter release, and neuronal excitability. The protein produced by the CACNA1G gene is particularly involved in the regulation of calcium ions flowing into cells in response to changes in membrane potential.
CACNA1I is a gene that encodes a protein known as the calcium voltage-gated channel subunit alpha-1 I. This protein is part of a larger family of calcium channels that are involved in the regulation of calcium ions (Ca²⁺) across cell membranes. Specifically, CACNA1I encodes the alpha-1 subunit of a specific type of voltage-gated calcium channel known as the "Cav3.
CACNA2D1 is a gene that encodes a subunit of a voltage-gated calcium channel. Specifically, it encodes the alpha-2/delta-1 subunit of the calcium channel complex. Voltage-gated calcium channels play a crucial role in various physiological processes, including muscle contraction, neurotransmitter release, and gene expression.
CACNA2D2 (Calcium Voltage-Gated Channel Subunit Alpha2 Delta 2) is a gene that encodes a protein involved in the function of voltage-gated calcium channels in the body. These channels play a critical role in the regulation of calcium ion influx into cells, which is essential for various physiological processes, including muscle contraction, neurotransmitter release, and hormone secretion.
CACNA2D3 is a gene that encodes the alpha-2/delta-3 subunit of voltage-gated calcium channels. These channels are critical for various physiological processes, including muscle contraction, neurotransmitter release, and other signal transduction pathways. The alpha-2/delta subunits play a role in the trafficking, expression, and regulation of the calcium channels.
CACNB1 (Calcium Voltage-Gated Channel Subunit Beta 1) is a gene that encodes a protein which is part of the voltage-gated calcium channel complex. This protein is a beta subunit that is essential for the proper functioning of calcium channels in the nervous and muscular systems. Calcium channels are crucial for various physiological processes, including muscle contraction, neurotransmitter release, and cell signaling.
CACNB2 is a gene that encodes the beta-2 subunit of voltage-dependent calcium channels. These calcium channels are integral membrane proteins that play a crucial role in the regulation of calcium ion (Ca²⁺) influx into cells, which is essential for various physiological processes, including muscle contraction, neurotransmitter release, and hormone secretion.
CACNB3 (Calcium Voltage-Gated Channel Subunit Beta 3) is a gene that encodes a protein which is part of the voltage-gated calcium channel complex. These channels are crucial for the regulation of calcium ions in various cell types, particularly in excitable tissues such as the heart and nervous system. The protein encoded by CACNB3 is a beta subunit that assists in the proper functioning of calcium channels by modulating their activity and trafficking to the cell membrane.
CACNB4, or calcium voltage-gated channel auxiliary subunit beta 4, is a gene that encodes a protein involved in the functioning of voltage-gated calcium channels. These channels play a crucial role in the regulation of various physiological processes by controlling the influx of calcium ions (Ca²⁺) into cells.
CACNG1, or Calcium Voltage-Gated Channel Subunit Alpha1 E, is a gene that encodes a protein involved in the voltage-dependent calcium channel complexes. Specifically, it encodes a subunit of the auxiliary calcium channel protein family, which plays a crucial role in the regulation of calcium ion flow across cell membranes. Calcium channels are essential for various physiological processes, including muscle contraction, neurotransmitter release, and gene expression.
CACNG2, or calcium voltage-gated channel auxiliary subunit gamma 2, is a gene that encodes a protein involved in the functioning of voltage-gated calcium channels. These channels play a critical role in regulating calcium ion flow into cells, which is essential for various physiological processes, including muscle contraction, neurotransmitter release, and the overall regulation of cellular signaling.
CACNG3, or Calcium Voltage-Gated Channel Subunit Alpha-2/D, is a gene that encodes a protein essential for the functioning of voltage-gated calcium channels. These channels play a critical role in the regulation of calcium ion entry into cells, which is vital for various physiological processes, including neurotransmitter release, muscle contraction, and the propagation of electrical signals in neurons and muscle cells.
CACNG4, or Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 4, is a gene that encodes a protein involved in the regulation of calcium channels. Specifically, it is a part of the auxiliary subunit family of voltage-gated calcium channels. These channels play crucial roles in various physiological processes, including muscle contraction, neurotransmitter release, and gene expression.
CHRNA1 is a gene that encodes the alpha-1 subunit of the nicotinic acetylcholine receptor (nAChR). This receptor plays a crucial role in the transmission of signals between nerve cells and muscles. It is a part of a larger family of acetylcholine receptors that are involved in various physiological functions, including muscle contraction and neurotransmission in the nervous system.
CHRNA10 is a gene that encodes a subunit of nicotinic acetylcholine receptors (nAChRs), which are a class of receptors that respond to the neurotransmitter acetylcholine. These receptors are involved in various neurological processes, including synaptic transmission and neuromuscular junction activity. The CHRNA10 gene is part of the larger family of nicotinic receptor genes and is known to play a role in modulating synaptic function and plasticity.
CHRNA5 refers to the gene that encodes the alpha-5 subunit of the nicotinic acetylcholine receptor (nAChR). This receptor is a type of ligand-gated ion channel that plays a critical role in neurotransmission in the nervous system by mediating the effects of the neurotransmitter acetylcholine. The CHRNA5 gene is located on chromosome 15 in humans and is part of a cluster of genes that encode components of nicotinic receptors.
CHRNA6 refers to the gene that encodes the alpha-6 subunit of the nicotinic acetylcholine receptor (nAChR). Nicotinic acetylcholine receptors are a class of receptors that mediate synaptic transmission in the nervous system and are involved in various physiological processes, including muscle contraction, cognition, and reward pathways. The CHRNA6 gene is located on chromosome 8 in humans and is part of the ligand-gated ion channel family.
CHRNA9 is a gene that encodes the alpha 9 subunit of the nicotinic acetylcholine receptor (nAChR), a type of receptor that is part of the larger family of ligand-gated ion channels. This particular receptor plays a crucial role in the nervous system by mediating synaptic transmission and influencing neuronal excitability.