Overview:

PDE6C or phosphodiesterase 6C, cGMP-specific, cone, alpha prime encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. PDE6C protein consists of 22 exons spanning approximately 48 kb of genomic DNA. The intron-exon structure of human PDE6C is very similar to that of rod PDE6B (1). A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene and mutations in PDE6C are associated with cone dystrophy type 4 (COD4) (2).

Gene Aliases:

PDEA2

Genbank Number:

BC111377

References:

1. Chang, B. et.al: A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.

2. Piriev, N. I. et.al: Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha-prime subunit (PDEA2) and its chromosomal localization to 10q24. Genomics 28: 429-435, 1995.