PDE6D phosphodiesterase 6D
Gene ID: 5147, updated on 5-Mar-2024Gene type: protein coding
Also known as: PDED; JBTS22
- See all available tests in GTR for this gene
- Go to complete Gene record for PDE6D
- Go to Variation Viewer for PDE6D variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variants associated with disordered eating. GeneReviews: Not available | |
| Joubert syndrome 22 | See labs |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available |
Genomic context
- Location:
- 2q37.1
- Sequence:
- Chromosome: 2; NC_000002.12 (231732433..231781282, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PDE6D variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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