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CNGA3 cdna clone

Scan QR to view Datasheet Catalog #    MBS1270879 CNGA3 cdna clone
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 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

CNGA3, cDNA Clone

 Also Known As   

CNGA3 cDNA Clone

 Product Gene Name   

CNGA3 cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence    Please Inquire
 OMIM    216900
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 Vector    Please Inquire
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of CNGA3 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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NCBI/Uniprot data below describe general gene information for CNGA3. It may not necessarily be applicable to this product.
 NCBI GI #    64654856
 NCBI GeneID    1261
 NCBI Accession #    BC096298 [Other Products]
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 UniProt Secondary Accession #    Q4VAP7; Q53RD2; Q6ZNA7; Q9UP64; E9PF93 [Other Products]
 UniProt Related Accession #    Q16281 [Other Products]
 Molecular Weight    79,062 Da
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 NCBI Official Full Name    Homo sapiens cyclic nucleotide gated channel alpha 3, mRNA
 NCBI Official Synonym Full Names    cyclic nucleotide gated channel alpha 3
 NCBI Official Symbol    CNGA3 [Similar Products]
 NCBI Official Synonym Symbols   
[Similar Products]
 NCBI Protein Information    cyclic nucleotide-gated cation channel alpha-3
 UniProt Protein Name    Cyclic nucleotide-gated cation channel alpha-3
 UniProt Synonym Protein Names   
Cone photoreceptor cGMP-gated channel subunit alpha; Cyclic nucleotide-gated channel alpha-3; CNG channel alpha-3; CNG-3; CNG3
 Protein Family    Cyclic nucleotide-gated cation channel
 UniProt Gene Name    CNGA3 [Similar Products]
 UniProt Synonym Gene Names    CNCG3; CNG channel alpha-3; CNG-3; CNG3 [Similar Products]
 UniProt Entry Name    CNGA3_HUMAN
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 NCBI Summary for CNGA3    This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
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 UniProt Comments for CNGA3    CNGA3: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3. Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. Defects in CNGA3 are the cause of achromatopsia type 2 (ACHM2); also known as total colorblindness or rod monochromacy (RMCH2). ACHM2 is an autosomal recessive condition characterized by day blindness and photophobia. In ACHM2 patients the cones are defective and the subjects see better at night. Defects in CNGA3 may be a cause of Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near- absent pupillary responses, photophobia, high hyperopia and keratoconus. Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA3 subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Channel, ligand-gated; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 2q11.2

Cellular Component: integral to plasma membrane

Molecular Function: cGMP binding; intracellular cAMP activated cation channel activity; intracellular cGMP activated cation channel activity; ligand-gated ion channel activity; voltage-gated potassium channel activity

Biological Process: cation transport; regulation of membrane potential; signal transduction; transport

Disease: Achromatopsia 2
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 Research Articles on CNGA3    1. The c.955T>C change identified in large consanguineous Pakistani family represents the first variant of CNGA3 which was found to be responsible for the cone-rod dystrophy phenotype.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Pathways associated with CNGA3 cdna cloneDiseases associated with CNGA3 cdna clone
 Products by Pathway  Pathway Diagram
 Olfactory Transduction Pathway antibodies  Olfactory Transduction Pathway Diagram
 Olfactory Transduction Pathway antibodies  Olfactory Transduction Pathway Diagram
 Visual Signal Transduction: Cones Pathway antibodies  Visual Signal Transduction: Cones Pathway Diagram
 Disease Name  Pubmed Publications
 Achromatopsia 2 Antibodies  >2 publications with CNGA3 and Achromatopsia 2
 Inflammation Antibodies  >1 publications with CNGA3 and Inflammation
 Neoplasms Antibodies  >1 publications with CNGA3 and Neoplasms
 Edema Antibodies  >1 publications with CNGA3 and Edema
Organs/Tissues associated with CNGA3 cdna clone
 Organ/Tissue Name  Pubmed Publications
 Eye Antibodies  >70 publications with CNGA3 and Eye
 Brain Antibodies  >17 publications with CNGA3 and Brain
 Testis Antibodies  >2 publications with CNGA3 and Testis
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