CNGA3 wt Allele

Preferred Label : CNGA3 wt Allele;

NCIt synonyms : CCNCa; Cyclic Nucleotide Gated Channel Alpha 3 Gene; CNG3; CCNC1; CNCG3; Cyclic Nucleotide Gated Channel Subunit Alpha 3 wt Allele; Cyclic Nucleotide-Gated Channel, Olfactory, 3 Gene; CCNCalpha; Cyclic Nucleotide-Gated Channel, Alpha-3 Gene; ACHM2;

NCIt definition : Human CNGA3 wild-type allele is located in the vicinity of 2q11.2 and is approximately 52 kb in length. This allele, which encodes cyclic nucleotide-gated cation channel alpha-3 protein, plays a role in G-protein coupled signaling and cation transport that modulates both vision and olfaction. Mutation of the gene is associated with achromatopsia 2.;

NCIt note : A homozygous missense mutation in the CNGA3 gene may be associated with Leber congenital amaurosis. (OMIM);

NCI Metathesaurus CUI : CL1907068;

GenBank Accession Number : S76069;

Details

Origin ID

C200233;

OMIM relation
- Cyclic nucleotide-gated channel, alpha-3 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Cone Cell Visual Signal Transduction Pathway [NCIt concept]
- Olfactory Transduction Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Olfaction [NCIt concept]
- Sight [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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