CNGA1 Antibody, Biotin conjugated

1. Compound heterozygous mutations (NM000087, p.Y82X and p.L89fs) in exon 6 of CNGA1are pathogenic mutations in this Chinese family affected with autosomal recessive retinitis pigmentosa. Of which, p.Y82X is firstly reported in patient with autosomal recessive retinitis pigmentosa. PMID: 27391953
2. The mut CNGA1 p.(G513R) protein was largely retained inside the cell rather than being targeted to the plasma membrane, suggesting the absence of cGMP-gated cation channels in the plasma membrane PMID: 26802146
3. CNGA1 mutations are one of the most frequent autosomal recessive retinitis pigmentosa-causing mutations in the Japanese patients. PMID: 25268133
4. Insulin receptor (IR), an integral membrane protein, directly phosphorylates the CNGA1 subunit of CNG channels that in turn affects the function of these channels negatively. CNGA1 is a direct substrate of IR. PMID: 23032687
5. Novel homozygous mutation R28X truncates CNGA1 very prematurely in patients with autosomal recessive retinitis pigmentosa. PMID: 12362048
6. isolated an endogenous transcript (anti-CNG1) that is antisense to CNG1 mRNA; data suggest the suppression of CNG(alpha)1 expression by anti-CNG1 may play an important role in neuronal functions, especially in synaptic plasticity and cortical development PMID: 12388767
7. The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry PMID: 12432397
8. The autosomal recessive retinitis pigmentosa in this family is caused by a mutation in CNGA1 gene. PMID: 15570217
9. Expressed in a stage- and cell-specific manner in the rat testis. PMID: 15713832

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HGNC: 2148

OMIM: 123825

KEGG: hsa:1259

STRING: 9606.ENSP00000384264

UniGene: Hs.1323