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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP.; Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit.
基因功能參考文獻:
Here, we present the first case of RP45 caused by an unequivocal homozygous nonsense variant of CNGB1 identified by run of homozygosity (ROH) analysis. PMID: 26901671
Helios, and not FoxP3, is the marker of activated Tregs expressing GARP/LAP, and FoxP3+Helios+ Tregs have more suppressive characteristics, compared with FoxP3+Helios- Tregs. PMID: 26343373
GARP2 expression in cones can be detrimental to cones. RDS/GARP interactions remain under investigation but are critical for both OS structure and function. PMID: 26720471
The p.Arg86Gln mutation actually appears to be a polymorphism common in ethnic West Africans and not associated with RP. This change may provide a useful marker for West African ancestry. PMID: 23201897
Deletion of the cyclic nucleotide gated channel CNGB1 alters response waveform but leaves light adaptation intact in a transgenic model. PMID: 21123569
When expressed in a heterologous expression system the corresponding mutant full-length CNGB1a subunit was more susceptible to proteosomal degradation compared to the wild-type counterpart PMID: 20126465
we report targeting of cyclic nucleotide-gated channel(CNG) to rod outer segment required interaction with ankyrin-G; ankyrin-G localized to rod outer segments, coimmunoprecipitated with CNG channel & bound to C-terminal domain of channel beta1 subunit PMID: 19299621