PDE6C wt Allele

Preferred Label : PDE6C wt Allele;

NCIt synonyms : Phosphodiesterase 6C wt Allele; ACHM5; Cone cGMP-Specific 3',5'-Cyclic Phosphodiesterase Subunit Alpha Gene; Phosphodiesterase 6C, cGMP-Specific, Cone, Alpha Prime Gene; COD4; PDEA2; Phosphodiesterase 6C, cGMP-Specific, Cone, Alpha-Prime Gene;

NCIt definition : Human PDE6C wild-type allele is located in the vicinity of 10q23.33 and is approximately 53 kb in length. This allele, which encodes cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' protein, is involved in the activity of cone-specific phosphodiesterase and light perception. Mutations in the gene are associated with cone dystrophy 4 and achromatopsia 5.;

NCI Metathesaurus CUI : CL1926754;

GenBank Accession Number : U31973;

Details

Origin ID

C204193;

UMLS CUI

C5890920;

OMIM relation
- Phosphodiesterase 6c [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q23.33 [NCIt concept]
gene_is_element_in_pathway
- Cone Cell Visual Signal Transduction Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Color Vision [NCIt concept]
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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