PDE6D

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]

Description

Phosphodiesterase 6D

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (231732433 - 231786272)

Ensembl ID

ENSG00000156973  (ver. 103.38)

Orthologs

Mouse Pde6d: ENSMUSG00000026239

UniProt

O43924

neXtProt

NX_O43924

Human splice variants
Mouse splice variants

Protein structure