Signal Transduction Antibodies 2
Anti-CNGA3 Antibody (CAB3288)
- SKU:
- CAB3288
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Signal Transduction
Description
Antibody Name: | Anti-CNGA3 Antibody |
Antibody SKU: | CAB3288 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-165 of human CNGA3 (NP_001289.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | BT-474, U-87MG, 293T, Mouse pancreas, Rat liver |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-165 of human CNGA3 (NP_001289.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MAKI NTQY SHPS RTHL KVKT SDRD LNRA ENGL SRAH SSSE ETSS VLQP GIAM ETRG LADS GQGS FTGQ GIAR LSRL IFLL RRWA ARHV HHQD QGPD SFPD RFRG AELK EVSS QESN AQAN VGSQ EPAD RGRS AWPL AKCN TNTS NNTE EEKK TKKK DAIV VDPS S |
Gene ID: | 1261 |
Uniprot: | Q16281 |
Cellular Location: | Membrane, Multi-pass membrane protein |
Calculated MW: | 76-79kDa |
Observed MW: | 110kDa |
Synonyms: | CNGA3, ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3 |
Background: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Membrane protein, multi-pass; Channel, ligand-gated Chromosomal Location of Human Ortholog: 2q11.2 Cellular Component: integral to plasma membrane; cytoplasm; dendrite; perikaryon Molecular Function:protein C-terminus binding; voltage-gated potassium channel activity; intracellular cAMP activated cation channel activity; intracellular cGMP activated cation channel activity; cGMP binding; ligand-gated ion channel activity Biological Process: phototransduction, visible light; response to magnesium ion; regulation of membrane potential; response to cAMP; visual perception; retinal cone cell development; transport; signal transduction; cation transport; response to corticosteroid stimulus Disease: Achromatopsia 2 |
NCBI Summary: | 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] |
UniProt Code: | Q16281 |
NCBI GenInfo Identifier: | 13959682 |
NCBI Gene ID: | 1261 |
NCBI Accession: | Q16281.2 |
UniProt Secondary Accession: | Q16281,Q4VAP7, Q53RD2, Q6ZNA7, Q9UP64, E9PF93, |
UniProt Related Accession: | Q16281 |
Molecular Weight: | Calculated MW 76-79kDaObserved MW 79kDa |
NCBI Full Name: | Cyclic nucleotide-gated cation channel alpha-3 |
NCBI Synonym Full Names: | cyclic nucleotide gated channel alpha 3 |
NCBI Official Symbol: | CNGA3 |
NCBI Official Synonym Symbols: | CNG3; ACHM2; CCNC1; CCNCa; CNCG3; CCNCalpha |
NCBI Protein Information: | cyclic nucleotide-gated cation channel alpha-3; CNG-3; CNG channel alpha-3; cyclic nucleotide-gated channel alpha-3; cone photoreceptor cGMP-gated channel alpha subunit; cone photoreceptor cGMP-gated channel subunit alpha |
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 |
UniProt Entry Name: | CNGA3_HUMAN |