Recombinant Human Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' (PDE6C PDEA2)

1. This study reveals two general mechanisms of missense PDE6C mutations underlying retinal diseases: (a) inability of AIPL1 to fold mutant PDE6C proteins leading to complete catalytic inactivity and (b) failure of P gamma regulatory subunit to serve as co-chaperone with AIPL1 in folding of mutant PDE6C. PMID: 28583373
2. A novel homozygous PDE6C mutation was identified as the cause of ACHM. In addition, we identified an OPN1SW mutation in the sibling with complete achromatopsia. PMID: 25605338
3. Expression of PDE6 in rod photoreceptors show that the cone PDE6 isoform is responsible for the difference in light adaptation between rods and cones. PMID: 26085644
4. The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). PMID: 23362848
5. Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia. PMID: 21267001
6. Eleven different PDE6C mutations were found including two nonsense mutations, three mutations affecting transcript splicing as shown by minigene assays, one 1 bp-insertion and five missense mutations PMID: 21127010
7. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. PMID: 19615668
8. analysis of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis rods PMID: 19801642
9. the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia was reported. PMID: 19887631

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HGNC: 8787

OMIM: 600827

KEGG: hsa:5146

STRING: 9606.ENSP00000360502

UniGene: Hs.658121