NP_061971.3
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
91,633 Da
NCBI Official Full Name
cyclic nucleotide-gated cation channel beta-3
NCBI Official Synonym Full Names
cyclic nucleotide gated channel beta 3
NCBI Official Synonym Symbols
NCBI Protein Information
cyclic nucleotide-gated cation channel beta-3; CNG channel beta-3; cone photoreceptor cGMP-gated cation channel beta-subunit; cyclic nucleotide-gated cation channel modulatory subunit
UniProt Protein Name
Cyclic nucleotide-gated cation channel beta-3
UniProt Synonym Protein Names
Cone photoreceptor cGMP-gated channel subunit beta; Cyclic nucleotide-gated cation channel modulatory subunit; Cyclic nucleotide-gated channel beta-3; CNG channel beta-3
UniProt Synonym Gene Names
UniProt Entry Name
CNGB3_HUMAN
NCBI Summary for CNGB3
This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
UniProt Comments for CNGB3
CNGB3: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod 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 efficiency of the channel when coexpressed with CNGA3. Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. Defects in CNGB3 are the cause of Stargardt disease type 1 (STGD1). STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD1 inheritance is autosomal recessive. Defects in CNGB3 are the cause of achromatopsia type 3 (ACHM3); also known as Pingelapese blindness. ACHM3 is a congenital complete achromatopsia and is distinct from total colorblindness mainly because of the consistent concurrence of severe myopia. Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB3 subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Channel, cation; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 8q21.3
Cellular Component: photoreceptor outer segment; integral to plasma membrane
Molecular Function: voltage-gated potassium channel activity; intracellular cAMP activated cation channel activity; intracellular cGMP activated cation channel activity; cGMP binding
Biological Process: phototransduction, visible light; regulation of membrane potential; visual perception; transport; signal transduction; cation transport
Disease: Achromatopsia 3; Stargardt Disease 1
Research Articles on CNGB3
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.
Products associated with CNGB3 elisa kit
Pathways associated with CNGB3 elisa kit
Diseases associated with CNGB3 elisa kit
Organs/Tissues associated with CNGB3 elisa kit
|