Overview:

PDE6D encodes the retinal rod rhodopsin-sensitive cGMP 3', 5'-cyclic phosphodiesterase subunit delta and is expressed in cells of the retinal rod and cone (1). PDE6D possesses the function to fornesylate, or prenylate or palmitoylate the membrane associated Ras and Rap GTPases to solubilize the target proteins (1,2). In addition, the solubilization activity of PDE6D is involved in the light adaption in the photoreceptors (1). Mutations in this gene have been identified as one cause of Joubert syndrome (3).

Gene Aliases:

PDED; JBTS22

Genbank Number:

NM_002601

References:

1. Florio, S. K. et.al: Solubilization of Membrane-bound Rod Phosphodiesterase by the Rod Phosphodiesterase Recombinant δ Subunit. The Journal of Biological Chemistry. 39 (271): 24036–24047, 1996.

2. Nancy, V. et.al: The δ Subunit of Retinal Rod cGMP Phosphodiesterase Regulates the Membrane Association of Ras and Rap GTPases. The Journal of Biological Chemistry. 17 (227): 15076–15084, 2002.

3. Thomas S. et al. Homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat. 2014; 35(1): 137–146.