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anti-Human GNAT2 Antibodies:
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this study describes several functional differences between transducin (show GNAT1 Antibodies) gene duplicates resulting from the teleost-specific tetraploidisation.
identifed cis (show CISH Antibodies)-regulatory elements in upstream promoter region of the TalphaC gene; found PRE-1 is a novel cis (show CISH Antibodies)-regulatory module that is sufficient to enhance initiation of photoreceptor-specific gene expression in differentiating rod and cone photoreceptors
Ca2 (show CA2 Antibodies)+ also regulates the extent of phosphorylation of unbleached cone pigments. Immunocytochemical analyses revealed that neither light nor cytoplasmic Ca2 (show CA2 Antibodies)+ influences the localization of transducin (show GNAT1 Antibodies) in zebrafish cones.
The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (show CNGB3 Antibodies) (p.T383fsX and p.T296YfsX9) and three in CNGA3 (show CNGA3 Antibodies) (p.R283Q, p.R427C and p.L527R).
Single nucleotide polymorphisms in GNAT2 gene is associated with obesity.
Expression of GNAT2 transgene, when found in rod photoreceptor cells rather than in cones, demonstrates different mechanisms of amplification in the body's G-protein alpha (show GNAO1 Antibodies) cascades and the activation of phosphodiesterase 6.
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
mutations in GNAT2 are implicated in achromatopsia
We detected a deletion of a highly conserved lysine at codon 270 in a critical functional area of the alpha-cone transducin (show GNAT1 Antibodies) molecule, and therefore is not the disease causing mutation.
Data suggest light reduces oxygen consumption rate (OCR) of retina; light does not affect OCR in retinas of Gnat1 (show GNAT1 Antibodies)-/- knockout mice (phototransduction disabled). Light reduces cGMP in retina; light does not alter cGMP in Gnat1 (show GNAT1 Antibodies)-/- plus Gnat2-/- retina.
The Gnat2(c.518A>G) mouse contains a missense mutation that results in no cone function due to a misfolding of transducin (show GNAT1 Antibodies). Cone photoreceptors also show signs of opsin (show RHO Antibodies) mislocalization, retinal remodeling and degeneration.
The Gnat2(cpfl3) mutation leads to cone dysfunction and the progressive loss of cone alpha-transducin (show GNAT1 Antibodies) immunolabeling.
rod and cone transducin alpha-subunits are functionally interchangeable and their signaling properties do not contribute to the intrinsic light sensitivity differences between rods and cones
Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones.
, Galpha t2
, T alpha C
, Tc alpha
, cone transducin alpha subunit
, guanine nucleotide-binding protein G(t) subunit alpha-2
, no optokinetic response f
, transducin alpha (cone)
, cone-type transducin alpha subunit
, transducin alpha-2 chain
, transducin, cone-specific, alpha polypeptide
, guanine nucleotide binding protein (G protein), alpha transducing 2
, guanine nucleotide binding protein, alpha transducing 2