Overview:

PDE6B is a member of the phosphodiesterase family of proteins that play a critical role in regulating intracellular levels of cAMP and cGMP. PDE6B is a high-affinity cGMP-specific PDE that shows high expression in the eye. Four mutations in the PDE6B gene lead to a degenerative disease of photoreceptors called retinitis pigmentosa and autosomal dominant congenital stationary night blindness (1). Subretinal injection of mice with retinal degeneration with PDE6B gene showed significant decrease in photoreceptor cell death (2). A nonsense mutation in the PDE6B gene is also the cause of Rod-cone dysplasia-1 (rcd1) in Irish setters.

Gene Aliases:

rd1; PDEB; RP40; CSNB3

Genbank Number:

NM_000283

References:

1. McLaughlin M E, et al: Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet. 1993 Jun;4(2):130-4.

2. Bennett J, et al: Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy. Nature Med. 2: 649, 1996.