CNGA3 Antibody

1. Here, we report the identification of a novel isoform of human CNGA3 resulting from an in-frame alternative translation initiation site (TIS) 154 bp downstream of the first TIS. Results suggest that the short isoform is not able to compensate for the loss of the long isoform leaving the biological role of this variant unclear. PMID:29499183
2. The c.1618G>A, p.Gly540Ser substitution in CNGA3 was identified as the causative mutation for a novel form of ACHM in Awassi sheep. Gene augmentation therapy restored vision in the affected sheep. This novel mutation provides a large-animal model that is valid for most human CNGA3 ACHM patients; the majority of them carry missense rather than premature-termination mutations. PMID:28282490
3. Four mutations (c.1682G>A;p.G561E, c.139C>T;p.Q47*, c.784G>C;p.A282P, c.1116delC;p.V373*) represent novel mutations of CNGA3 reported herein for the first time in patients with Achromatopsia. PMID:28159970
4. The two novel mutations found in the CNGA3 gene, c.997_998delGA and p.M424V, can cause complete achromatopsia. The vision of the patient was stationary until the third decade of life although the FAF was altered at the age of 22 years. PMID:27040408
5. 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. PMID:25052312
6. Among Israeli and Palestinian patients, CNGA3 mutations are the leading cause of achromatopsia. Retinal structural results support the candidacy of CNGA3 ACHM for clinical trials for therapy of cone photoreceptors. PMID:25616768
7. CNGA3 mutation is the most frequent cause of achromatopsia in this cohort of patients. Ten novel mutations were identified in CNGA3. PMID:25637600
8. Our results suggest that CNGA3 mutations are a common cause of cone-rod dystrophies and achromatopsia in the Chinese population. PMID:24903488
9. Genetic testing revealed a common homozygous mutation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia. PMID:24676353
10. CNGA3 alternative splicing may have evolved, in part, to tune the interactions between cone CNG channels and membrane-bound phosphoinositides. PMID:24675082
11. The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). PMID:23362848
12. The biochemical feedback regulation of CNGA3 mutations in color blindness is reported. PMID:23677796
13. These studies support a model in which intersubunit interactions control the sensitivity of cone CNG channels to regulation by phosphoinositides. PMID:23552282
14. in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A PMID:21901789
15. observed a nuclear translocation of apoptosis-inducing factor (AIF) and endonuclease G in CNGA3(-/-)/Nrl(-/-) and CNGB3(-/-)/Nrl(-/-) retinas, implying a mitochondrial insult in the endoplasmic reticulum stress-activated cell death process PMID:22493484
16. We describe a novel S4 motif mutation of CNGA3 in a Pakistani family. PMID:21912902
17. Two compound heterozygous mutations were identified in CNGA3 of this patient, c.829C>T p.R277C and c.1580T>G p.L527R; they were not observed in the normal population and cosegregated with the phenotype of achromatopsia in the patient's family. PMID:21911670
18. Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia. PMID:21267001
19. This is the second reported case of CNGA3 associated oligocone trichromacy (OT). PMID:21268679
20. Data identified three novel mutations in the pore-forming region of CNGA3 (L363P, G367V, and E376K) in achromatopsia patients, and reduced macroscopic currents for channels with the mutations G367V, and E376K. PMID:20506298
21. haplotype analysis of c.1585G>A-bearing chromosomes from Middle Eastern and European origins showed a shared Muslim-Jewish haplotype, different from that detected in Europeans, indicating a recurrent mutation with a Jewish-Muslim founder effect PMID:20549516
22. Genetic analysis of two Pakistani families with retinal disease enabled the establishment of the correct diagnosis of achromatopsia. Two novel mutations were identified in CNGA3 and CNGB3 that are both specifically expressed in cone photoreceptors. PMID:20454696
23. Our data indicate that these genes are involved in a broader spectrum of cone dysfunction, and it remains intriguing why initial cone function can be spared despite similar gene defects. PMID:20079539
24. Novel causative CNGA3 missense mutations found in Achromatopsia patients in the United Kingdom. PMID:14757870
25. the S4 structural motif of CNGA3 is important for cellular processing of cone photoreceptor cyclic GMP-gated ion channels PMID:15024024
26. Functional markers for CNGA3 (A3) dimers confirms that A3 subunits gain membership into the pore-forming tetramers and that like subunits are positioned adjacent to each other in cone photoreceptors. PMID:15134637
27. Out of 36 achromats, 12 (33%) had mutations in CNGA3 (13 different mutations including five novel mutations). PMID:15712225
28. Plasma membrane localization and gating properties of cone CNGA3 channels are altered by progressive cone dystrophy-associated mutations, evidence of pathogenicity of these mutations. PMID:15743887
29. Mutations in CNGA3 and CNGB3 account for achromatopsia in Hungarian patients including known mutations and a few new CNGB3 mutations. PMID:16319819
30. The outcome suggests low frequency (7%, 1/14) of CNGA3 mutations (R436W, L633P) in Japanese patients. PMID:16961972
31. Phospholipid metabolism and exogenously applied phosphatidylinositol 3,4,5-trisphosphate can modulate heterologously expressed cone CNG channels. PMID:17018579
32. the T565M and E593K mutations of CNGA3 alter the apparent affinity for cGMP of the channels to cause cone dysfunction, resulting in rod monochromacy PMID:17693388
33. identification of three new CNGA3 mutations in patients with achromatopsia PMID:18445228
34. The identification of three novel CNGA3 missense mutations in achromatopsia patients. PMID:18521937
35. Achromatopsia in these two United Arab Emirates families results from two different mutations in CNGA3. PMID:18636117
36. The CNGB3 gene was by far the most important causal gene, and T383IfsX13 the most frequent mutation in complete and incomplete achromatopsia. PMID:19592100
37. mutations in cone photoreceptor disorders PMID:11536077

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HGNC: 2150

UNIGENE: Hs.234785

KEGG: hsa:1261

STRING: 9606.ENSP00000272602

OMIM: 216900