phosphodiesterase 6D

JBTS22

phosphodiesterase 6D, cGMP-specific, rod, delta

retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta

Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta

Protein p17

GMP-PDE delta

This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014].

Varaico: Literature-Extracted Genetic Variants

PDE6D

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Alias Symbol