| CNGA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CNGA3 , ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3, Cyclic nucleotide-gated channel alpha 3, cyclic nucleotide gated channel alpha 3, cyclic nucleotide gated channel subunit alpha 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 600053 MGI: 1341818 HomoloGene: 994 GeneCards: CNGA3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene. [5] [6] [7] [8]
This gene encodes a member of the cyclic nucleotide-gated cation channel protein family, which is required for normal vision and olfactory signal transduction. CNGA3 is expressed in cone photoreceptors and is necessary for color vision. [9] Missense mutations in this gene are associated with rod monochromacy and segregate in an autosomal recessive pattern. [9] Two alternatively-spliced transcripts encoding different isoforms have been described. [8]
Variants in this gene have been shown to cause achromatopsia [10] and colour blindness.
Achromatopsia, also known as Rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy. Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition. The term is also used to describe cerebral achromatopsia, though monochromacy is usually the only common symptom. The conditions include: monochromatic color blindness, poor visual acuity, and day-blindness. The syndrome is also present in an incomplete form that exhibits milder symptoms, including residual color vision. Achromatopsia is estimated to affect 1 in 30,000 live births worldwide.
Cyclic nucleotide–gated ion channels or CNG channels are ion channels that function in response to the binding of cyclic nucleotides. CNG channels are nonselective cation channels that are found in the membranes of various tissue and cell types, and are significant in sensory transduction as well as cellular development. Their function can be the result of a combination of the binding of cyclic nucleotides and either a depolarization or a hyperpolarization event. Initially discovered in the cells that make up the retina of the eye, CNG channels have been found in many different cell types across both the animal and the plant kingdoms. CNG channels have a very complex structure with various subunits and domains that play a critical role in their function. CNG channels are significant in the function of various sensory pathways including vision and olfaction, as well as in other key cellular functions such as hormone release and chemotaxis. CNG channels have also been found to exist in prokaryotes, including many spirochaeta, though their precise role in bacterial physiology remains unknown.
3′,5′-cyclic-nucleotide phosphodiesterases (EC 3.1.4.17) are a family of phosphodiesterases. Generally, these enzymes hydrolyze a nucleoside 3′,5′-cyclic phosphate to a nucleoside 5′-phosphate:
Glutamate receptor, metabotropic 6, also known as GRM6 or mGluR6, is a protein which in humans is encoded by the GRM6 gene.
X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene. The gene is located on the X-chromosome and is commonly associated with X-linked retinitis pigmentosa (XLRP). In photoreceptor cells, RPGR is localized in the connecting cilium which connects the protein-synthesizing inner segment to the photosensitive outer segment and is involved in the modulation of cargo trafficked between the two segments.
Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene.
Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta is the beta subunit of the protein complex PDE6 that is encoded by the PDE6B gene. PDE6 is crucial in transmission and amplification of visual signal. The existence of this beta subunit is essential for normal PDE6 functioning. Mutations in this subunit are responsible for retinal degeneration such as retinitis pigmentosa or congenital stationary night blindness.
Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.
Guanine nucleotide-binding protein G(t) subunit alpha-2 is a protein that in humans is encoded by the GNAT2 gene.
Guanine nucleotide-binding protein G(t) subunit alpha-1 is a protein that in humans is encoded by the GNAT1 gene.
Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein.
Cyclic nucleotide-gated channel alpha 1, also known as CNGA1, is a human gene encoding an ion channel protein. Heterologously expressed CNGA1 can form a functional channel that is permeable to calcium. In rod photoreceptors, however, CNGA1 forms a heterotetramer with CNGB1 in a 3:1 ratio. The addition of the CNGB1 channel imparts altered properties including more rapid channel kinetics and greater cAMP-activated current. When light hits rod photoreceptors, cGMP concentrations decrease causing rapid closure of CNGA1/B1 channels and, therefore, hyperpolarization of the membrane potential.
Cyclic nucleotide gated channel beta 1, also known as CNGB1, is a human gene encoding an ion channel protein.
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha is an enzyme that in humans is encoded by the PDE6A gene.
Cyclic nucleotide gated channel alpha 2, also known as CNGA2, is a human gene encoding an ion channel protein.
Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' is an enzyme that in humans is encoded by the PDE6C gene.
Cyclic nucleotide-gated cation channel alpha-4 is a protein that in humans is encoded by the CNGA4 gene.
Potassium voltage-gated channel subfamily V member 2 is a protein that in humans is encoded by the KCNV2 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.
Calcium channel, voltage-dependent, alpha 2/delta subunit 4 is a protein that in humans is encoded by the CACNA2D4 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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