PDE6C wt Allele

**Semantic type:** Gene or Genome

**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.

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