Cyclic nucleotide-gated channel alpha 3

Cyclic nucleotide-gated channel alpha 3 (CNGA3) is a protein that in humans is encoded by the CNGA3 gene. This protein is a subunit of a cyclic nucleotide-gated ion channel that plays a crucial role in the phototransduction pathway of the cone photoreceptor cells in the retina.

Function[edit]

The CNGA3 protein is an integral membrane protein that forms a voltage-independent ion channel activated by the binding of cyclic nucleotides. This ion channel is a complex composed of a homotetramer or a heterotetramer of different subunits, including the alpha-3 subunit. The CNGA3 subunit can bind cyclic GMP and cyclic AMP, and is involved in the depolarization of photoreceptor cells in the retina.

Clinical significance[edit]

Mutations in the CNGA3 gene are associated with achromatopsia (ACHM2), a rare congenital disorder characterized by the absence of color vision. Patients with ACHM2 have difficulty distinguishing colors, decreased visual acuity, and increased sensitivity to light.

References[edit]

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 Membrane transport protein: ion channels (TC 1A)

see also disorders

Protein: cell membrane proteins (other than Cell surface receptor, enzymes, and cytoskeleton)

Arrestin	* SAG ARRB1 ARRB2 ARR3
Membrane-spanning 4A	* MS4A1 MS4A2 MS4A3 MS4A4A MS4A4E MS4A5 MS4A6A MS4A6E MS4A7 MS4A8B MS4A9 MS4A10 MS4A12 MS4A13 MS4A14 MS4A15 MS4A18
Myelin	* Myelin basic protein PMP2 Myelin proteolipid protein PLP1 Myelin oligodendrocyte glycoprotein Myelin-associated glycoprotein Myelin protein zero
Pulmonary surfactant	* Pulmonary surfactant-associated protein B Pulmonary surfactant-associated protein C
Tetraspanin	* TSPAN1 TSPAN2 TSPAN3 TSPAN4 TSPAN5 TSPAN6 TSPAN7 TSPAN8 TSPAN9 TSPAN10 TSPAN11 TSPAN12 TSPAN13 TSPAN14 TSPAN15 TSPAN16 TSPAN17 TSPAN18 TSPAN19 TSPAN20 TSPAN21 TSPAN22 TSPAN23 TSPAN24 TSPAN25 TSPAN26 TSPAN27 TSPAN28 TSPAN29 TSPAN30 TSPAN31 TSPAN32 TSPAN33 TSPAN34

see also other cell membrane protein disorders

Human Proteins

General	* Protein structure Protein function Protein–protein interaction Post-translational modification
By function	* Enzyme Kinase Phosphatase Transferase Structural protein Motor protein Signal transduction Receptor Ion channel Transport protein
By cellular component	* Membrane protein Integral membrane protein Peripheral membrane protein Cytoskeleton Extracellular matrix
Related topics	* Human genome Proteomics Bioinformatics Protein folding Protein domain Protein tag

This human proteins-related article is a stub. You can help WikiMD by expanding it.

Genetics and Genomics

Basics	* Gene Genome Chromosome DNA RNA Protein Genetic variation Mutation Genetic recombination Genetic linkage Genetic code
Processes	* Transcription RNA splicing Translation Replication Cell division Mitosis Meiosis
Genetic Engineering	* Recombinant DNA Genetic modification Gene knockout Gene therapy CRISPR
Genomics	* Genomics Functional genomics Structural genomics Comparative genomics Epigenomics Metagenomics
Applications	* Personalized medicine Pharmacogenomics Genealogy DNA test Biotechnology Synthetic biology

This Genetics related article is a stub.

Vision‏‎

Basics	* Eye Visual perception Visual system
Disorders	* Myopia Hyperopia Astigmatism (eye) Presbyopia Color blindness Night blindness Blindness
Diagnosis and Treatment	* Eye examination Visual acuity Glasses Contact lens Laser eye surgery Cataract surgery
Related Fields	* Optometry Ophthalmology Neuroscience Visual arts
See also	* Light Optical illusion Perspective (graphical)

This Vision related articles is a stub.

This ophthalmology article is a stub. You can help WikiMD by expanding the page.

Genetic disorders relating to deficiencies of transcription factor or coregulators

(1) Basic domains

1.2	* Feingold syndrome Saethre–Chotzen syndrome
1.3	* Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	* (Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis
2.2	* Barakat syndrome Tricho–rhino–phalangeal syndrome
2.3	* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2
2.5	* Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	* ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome
3.2	* PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3
3.3	* FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX
3.5	* IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	* Hyperimmunoglobulin E syndrome
4.3	* Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome
4.7	* Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome
4.11	* Cleidocranial dysostosis

(0) Other transcription factors

0.6	* Kabuki syndrome

Cyclic nucleotide-gated channel alpha 3

Function[edit]

Clinical significance[edit]

See also[edit]

References[edit]